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Items: 1 to 20 of 139

1.

rs1486701528 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    1:150220729 (GRCh38)
    1:150193031 (GRCh37)
    Canonical SPDI:
    NC_000001.11:150220728:G:A,NC_000001.11:150220728:G:T
    Gene:
    ANP32E (Varview)
    Functional Consequence:
    coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,stop_gained,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000028/1 (ALFA)
    A=0.000008/2 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000001.11:g.150220729G>A, NC_000001.11:g.150220729G>T, NW_003871055.3:g.7036142G>A, NW_003871055.3:g.7036142G>T, NC_000001.10:g.150193031G>A, NC_000001.10:g.150193031G>T, XM_005245513.5:c.823C>T, XM_005245513.5:c.823C>A, XM_005245513.4:c.823C>T, XM_005245513.4:c.823C>A, XM_005245513.3:c.823C>T, XM_005245513.3:c.823C>A, XM_005245513.2:c.823C>T, XM_005245513.2:c.823C>A, XM_005245513.1:c.823C>T, XM_005245513.1:c.823C>A, NM_030920.5:c.769C>T, NM_030920.5:c.769C>A, NM_030920.4:c.769C>T, NM_030920.4:c.769C>A, XM_005245514.5:c.714C>T, XM_005245514.5:c.714C>A, XM_005245514.4:c.714C>T, XM_005245514.4:c.714C>A, XM_005245514.3:c.714C>T, XM_005245514.3:c.714C>A, XM_005245514.2:c.714C>T, XM_005245514.2:c.714C>A, XM_005245514.1:c.714C>T, XM_005245514.1:c.714C>A, NM_001136478.4:c.646C>T, NM_001136478.4:c.646C>A, NM_001136478.3:c.646C>T, NM_001136478.3:c.646C>A, XM_017002418.3:c.820C>T, XM_017002418.3:c.820C>A, XM_017002418.2:c.820C>T, XM_017002418.2:c.820C>A, XM_017002418.1:c.820C>T, XM_017002418.1:c.820C>A, NM_001136479.3:c.625C>T, NM_001136479.3:c.625C>A, NM_001136479.2:c.625C>T, NM_001136479.2:c.625C>A, NM_001280559.2:c.766C>T, NM_001280559.2:c.766C>A, NM_001280559.1:c.766C>T, NM_001280559.1:c.766C>A, NM_001280560.2:c.*50C>T, NM_001280560.2:c.*50C>A, NM_001280560.1:c.*50C>T, NM_001280560.1:c.*50C>A, XP_005245570.1:p.Arg275Ter, NP_112182.1:p.Arg257Ter, XP_005245571.1:p.Asn238Lys, NP_001129950.1:p.Arg216Ter, XP_016857907.1:p.Arg274Ter, NP_001129951.1:p.Arg209Ter, NP_001267488.1:p.Arg256Ter
    2.

    rs1483016143 has merged into rs782568368 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTCCTCCTCCTCTTCCTC>- [Show Flanks]
      Chromosome:
      1:150226719 (GRCh38)
      1:150199051 (GRCh37)
      Canonical SPDI:
      NC_000001.11:150226704:TCCTCCTCTTCCTCTTCCTCCTCCTCTTCCTC:TCCTCCTCTTCCTC
      Gene:
      ANP32E (Varview)
      Functional Consequence:
      inframe_deletion,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCCTCCTCTTCCTC=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.000017/2 (ExAC)
      -=0.000021/5 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.150226719_150226736del, NW_003871055.3:g.7042132_7042149del, NC_000001.10:g.150199051_150199068del, XM_005245513.5:c.567_584del, XM_005245513.4:c.567_584del, XM_005245513.3:c.567_584del, XM_005245513.2:c.567_584del, XM_005245513.1:c.567_584del, NM_030920.5:c.567_584del, NM_030920.4:c.567_584del, XM_005245514.5:c.567_584del, XM_005245514.4:c.567_584del, XM_005245514.3:c.567_584del, XM_005245514.2:c.567_584del, XM_005245514.1:c.567_584del, NM_001136478.4:c.444_461del, NM_001136478.3:c.444_461del, XM_017002418.3:c.567_584del, XM_017002418.2:c.567_584del, XM_017002418.1:c.567_584del, NM_001136479.3:c.423_440del, NM_001136479.2:c.423_440del, NM_001280559.2:c.567_584del, NM_001280559.1:c.567_584del, NM_001280560.2:c.401_418del, NM_001280560.1:c.401_418del, XP_005245570.1:p.Glu189_Glu194del, NP_112182.1:p.Glu189_Glu194del, XP_005245571.1:p.Glu189_Glu194del, NP_001129950.1:p.Glu148_Glu153del, XP_016857907.1:p.Glu189_Glu194del, NP_001129951.1:p.Glu141_Glu146del, NP_001267488.1:p.Glu189_Glu194del, NP_001267489.1:p.Arg134_Arg139del
      3.

      rs1452815497 has merged into rs781798355 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ATCCTC>-,ATCCTCATCCTC [Show Flanks]
        Chromosome:
        1:150226704 (GRCh38)
        1:150199036 (GRCh37)
        Canonical SPDI:
        NC_000001.11:150226689:TCATCCTCATCCTCATCCTC:TCATCCTCATCCTC,NC_000001.11:150226689:TCATCCTCATCCTCATCCTC:TCATCCTCATCCTCATCCTCATCCTC
        Gene:
        ANP32E (Varview)
        Functional Consequence:
        inframe_insertion,inframe_deletion,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TCATCCTCATCCTC=0.00006/1 (ALFA)
        -=0.00113/19 (TOMMO)
        -=0.00328/6 (Korea1K)
        HGVS:
        NC_000001.11:g.150226692ATCCTC[2], NC_000001.11:g.150226692ATCCTC[4], NW_003871055.3:g.7042105ATCCTC[2], NW_003871055.3:g.7042105ATCCTC[4], NC_000001.10:g.150199024ATCCTC[2], NC_000001.10:g.150199024ATCCTC[4], XM_005245513.5:c.582GGATGA[2], XM_005245513.5:c.582GGATGA[4], XM_005245513.4:c.582GGATGA[2], XM_005245513.4:c.582GGATGA[4], XM_005245513.3:c.582GGATGA[2], XM_005245513.3:c.582GGATGA[4], XM_005245513.2:c.582GGATGA[2], XM_005245513.2:c.582GGATGA[4], XM_005245513.1:c.582GGATGA[2], XM_005245513.1:c.582GGATGA[4], NM_030920.5:c.582GGATGA[2], NM_030920.5:c.582GGATGA[4], NM_030920.4:c.582GGATGA[2], NM_030920.4:c.582GGATGA[4], XM_005245514.5:c.582GGATGA[2], XM_005245514.5:c.582GGATGA[4], XM_005245514.4:c.582GGATGA[2], XM_005245514.4:c.582GGATGA[4], XM_005245514.3:c.582GGATGA[2], XM_005245514.3:c.582GGATGA[4], XM_005245514.2:c.582GGATGA[2], XM_005245514.2:c.582GGATGA[4], XM_005245514.1:c.582GGATGA[2], XM_005245514.1:c.582GGATGA[4], NM_001136478.4:c.459GGATGA[2], NM_001136478.4:c.459GGATGA[4], NM_001136478.3:c.459GGATGA[2], NM_001136478.3:c.459GGATGA[4], XM_017002418.3:c.582GGATGA[2], XM_017002418.3:c.582GGATGA[4], XM_017002418.2:c.582GGATGA[2], XM_017002418.2:c.582GGATGA[4], XM_017002418.1:c.582GGATGA[2], XM_017002418.1:c.582GGATGA[4], NM_001136479.3:c.438GGATGA[2], NM_001136479.3:c.438GGATGA[4], NM_001136479.2:c.438GGATGA[2], NM_001136479.2:c.438GGATGA[4], NM_001280559.2:c.582GGATGA[2], NM_001280559.2:c.582GGATGA[4], NM_001280559.1:c.582GGATGA[2], NM_001280559.1:c.582GGATGA[4], NM_001280560.2:c.416GGATGA[2], NM_001280560.2:c.416GGATGA[4], NM_001280560.1:c.416GGATGA[2], NM_001280560.1:c.416GGATGA[4], XP_005245570.1:p.195DE[4], XP_005245570.1:p.195DE[6], NP_112182.1:p.195DE[4], NP_112182.1:p.195DE[6], XP_005245571.1:p.195DE[4], XP_005245571.1:p.195DE[6], NP_001129950.1:p.154DE[4], NP_001129950.1:p.154DE[6], XP_016857907.1:p.195DE[4], XP_016857907.1:p.195DE[6], NP_001129951.1:p.147DE[4], NP_001129951.1:p.147DE[6], NP_001267488.1:p.195DE[4], NP_001267488.1:p.195DE[6], NP_001267489.1:p.139RM[2], NP_001267489.1:p.139RM[4]
        4.

        rs1449650202 has merged into rs781986830 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTCATCTTCATC>-,TTCATC,TTCATCTTCATCTTCATC [Show Flanks]
          Chromosome:
          1:150226683 (GRCh38)
          1:150199015 (GRCh37)
          Canonical SPDI:
          NC_000001.11:150226675:CTTCATCTTCATCTTCATC:CTTCATC,NC_000001.11:150226675:CTTCATCTTCATCTTCATC:CTTCATCTTCATC,NC_000001.11:150226675:CTTCATCTTCATCTTCATC:CTTCATCTTCATCTTCATCTTCATC
          Gene:
          ANP32E (Varview)
          Functional Consequence:
          inframe_insertion,inframe_deletion,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CTTCATCTTCATCTTCATCTTCATC=0.000073/2 (ALFA)
          -=0.000114/9 (PAGE_STUDY)
          -=0.000259/1 (ALSPAC)
          CTTCAT=0.000312/2 (1000Genomes)
          -=0.000929/246 (TOPMED)
          -=0.001079/4 (TWINSUK)
          -=0.003914/49 (GoESP)
          HGVS:
          NC_000001.11:g.150226677TTCATC[1], NC_000001.11:g.150226677TTCATC[2], NC_000001.11:g.150226677TTCATC[4], NW_003871055.3:g.7042090TTCATC[1], NW_003871055.3:g.7042090TTCATC[2], NW_003871055.3:g.7042090TTCATC[4], NC_000001.10:g.150199009TTCATC[1], NC_000001.10:g.150199009TTCATC[2], NC_000001.10:g.150199009TTCATC[4], XM_005245513.5:c.596ATGAAG[1], XM_005245513.5:c.596ATGAAG[2], XM_005245513.5:c.596ATGAAG[4], XM_005245513.4:c.596ATGAAG[1], XM_005245513.4:c.596ATGAAG[2], XM_005245513.4:c.596ATGAAG[4], XM_005245513.3:c.596ATGAAG[1], XM_005245513.3:c.596ATGAAG[2], XM_005245513.3:c.596ATGAAG[4], XM_005245513.2:c.596ATGAAG[1], XM_005245513.2:c.596ATGAAG[2], XM_005245513.2:c.596ATGAAG[4], XM_005245513.1:c.596ATGAAG[1], XM_005245513.1:c.596ATGAAG[2], XM_005245513.1:c.596ATGAAG[4], NM_030920.5:c.596ATGAAG[1], NM_030920.5:c.596ATGAAG[2], NM_030920.5:c.596ATGAAG[4], NM_030920.4:c.596ATGAAG[1], NM_030920.4:c.596ATGAAG[2], NM_030920.4:c.596ATGAAG[4], XM_005245514.5:c.596ATGAAG[1], XM_005245514.5:c.596ATGAAG[2], XM_005245514.5:c.596ATGAAG[4], XM_005245514.4:c.596ATGAAG[1], XM_005245514.4:c.596ATGAAG[2], XM_005245514.4:c.596ATGAAG[4], XM_005245514.3:c.596ATGAAG[1], XM_005245514.3:c.596ATGAAG[2], XM_005245514.3:c.596ATGAAG[4], XM_005245514.2:c.596ATGAAG[1], XM_005245514.2:c.596ATGAAG[2], XM_005245514.2:c.596ATGAAG[4], XM_005245514.1:c.596ATGAAG[1], XM_005245514.1:c.596ATGAAG[2], XM_005245514.1:c.596ATGAAG[4], NM_001136478.4:c.473ATGAAG[1], NM_001136478.4:c.473ATGAAG[2], NM_001136478.4:c.473ATGAAG[4], NM_001136478.3:c.473ATGAAG[1], NM_001136478.3:c.473ATGAAG[2], NM_001136478.3:c.473ATGAAG[4], XM_017002418.3:c.596ATGAAG[1], XM_017002418.3:c.596ATGAAG[2], XM_017002418.3:c.596ATGAAG[4], XM_017002418.2:c.596ATGAAG[1], XM_017002418.2:c.596ATGAAG[2], XM_017002418.2:c.596ATGAAG[4], XM_017002418.1:c.596ATGAAG[1], XM_017002418.1:c.596ATGAAG[2], XM_017002418.1:c.596ATGAAG[4], NM_001136479.3:c.452ATGAAG[1], NM_001136479.3:c.452ATGAAG[2], NM_001136479.3:c.452ATGAAG[4], NM_001136479.2:c.452ATGAAG[1], NM_001136479.2:c.452ATGAAG[2], NM_001136479.2:c.452ATGAAG[4], NM_001280559.2:c.596ATGAAG[1], NM_001280559.2:c.596ATGAAG[2], NM_001280559.2:c.596ATGAAG[4], NM_001280559.1:c.596ATGAAG[1], NM_001280559.1:c.596ATGAAG[2], NM_001280559.1:c.596ATGAAG[4], NM_001280560.2:c.430ATGAAG[1], NM_001280560.2:c.430ATGAAG[2], NM_001280560.2:c.430ATGAAG[4], NM_001280560.1:c.430ATGAAG[1], NM_001280560.1:c.430ATGAAG[2], NM_001280560.1:c.430ATGAAG[4], XP_005245570.1:p.195DE[3], XP_005245570.1:p.195DE[4], XP_005245570.1:p.195DE[6], NP_112182.1:p.195DE[3], NP_112182.1:p.195DE[4], NP_112182.1:p.195DE[6], XP_005245571.1:p.195DE[3], XP_005245571.1:p.195DE[4], XP_005245571.1:p.195DE[6], NP_001129950.1:p.154DE[3], NP_001129950.1:p.154DE[4], NP_001129950.1:p.154DE[6], XP_016857907.1:p.195DE[3], XP_016857907.1:p.195DE[4], XP_016857907.1:p.195DE[6], NP_001129951.1:p.147DE[3], NP_001129951.1:p.147DE[4], NP_001129951.1:p.147DE[6], NP_001267488.1:p.195DE[3], NP_001267488.1:p.195DE[4], NP_001267488.1:p.195DE[6], NP_001267489.1:p.144MK[1], NP_001267489.1:p.144MK[2], NP_001267489.1:p.144MK[4]
          8.

          rs1411944721 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            1:150220702 (GRCh38)
            1:150193004 (GRCh37)
            Canonical SPDI:
            NC_000001.11:150220701:C:A,NC_000001.11:150220701:C:T
            Gene:
            ANP32E (Varview)
            Functional Consequence:
            missense_variant,stop_gained,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000001.11:g.150220702C>A, NC_000001.11:g.150220702C>T, NW_003871055.3:g.7036115C>A, NW_003871055.3:g.7036115C>T, NC_000001.10:g.150193004C>A, NC_000001.10:g.150193004C>T, XM_005245513.5:c.850G>T, XM_005245513.5:c.850G>A, XM_005245513.4:c.850G>T, XM_005245513.4:c.850G>A, XM_005245513.3:c.850G>T, XM_005245513.3:c.850G>A, XM_005245513.2:c.850G>T, XM_005245513.2:c.850G>A, XM_005245513.1:c.850G>T, XM_005245513.1:c.850G>A, NM_030920.5:c.796G>T, NM_030920.5:c.796G>A, NM_030920.4:c.796G>T, NM_030920.4:c.796G>A, XM_005245514.5:c.741G>T, XM_005245514.5:c.741G>A, XM_005245514.4:c.741G>T, XM_005245514.4:c.741G>A, XM_005245514.3:c.741G>T, XM_005245514.3:c.741G>A, XM_005245514.2:c.741G>T, XM_005245514.2:c.741G>A, XM_005245514.1:c.741G>T, XM_005245514.1:c.741G>A, NM_001136478.4:c.673G>T, NM_001136478.4:c.673G>A, NM_001136478.3:c.673G>T, NM_001136478.3:c.673G>A, XM_017002418.3:c.847G>T, XM_017002418.3:c.847G>A, XM_017002418.2:c.847G>T, XM_017002418.2:c.847G>A, XM_017002418.1:c.847G>T, XM_017002418.1:c.847G>A, NM_001136479.3:c.652G>T, NM_001136479.3:c.652G>A, NM_001136479.2:c.652G>T, NM_001136479.2:c.652G>A, NM_001280559.2:c.793G>T, NM_001280559.2:c.793G>A, NM_001280559.1:c.793G>T, NM_001280559.1:c.793G>A, NM_001280560.2:c.*77G>T, NM_001280560.2:c.*77G>A, NM_001280560.1:c.*77G>T, NM_001280560.1:c.*77G>A, XP_005245570.1:p.Glu284Ter, XP_005245570.1:p.Glu284Lys, NP_112182.1:p.Glu266Ter, NP_112182.1:p.Glu266Lys, XP_005245571.1:p.Lys247Asn, NP_001129950.1:p.Glu225Ter, NP_001129950.1:p.Glu225Lys, XP_016857907.1:p.Glu283Ter, XP_016857907.1:p.Glu283Lys, NP_001129951.1:p.Glu218Ter, NP_001129951.1:p.Glu218Lys, NP_001267488.1:p.Glu265Ter, NP_001267488.1:p.Glu265Lys
            12.
            13.

            rs1383186312 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              1:150229154 (GRCh38)
              1:150201487 (GRCh37)
              Canonical SPDI:
              NC_000001.11:150229153:T:C,NC_000001.11:150229153:T:G
              Gene:
              ANP32E (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.150229154T>C, NC_000001.11:g.150229154T>G, NW_003871055.3:g.7044567T>C, NW_003871055.3:g.7044567T>G, NC_000001.10:g.150201487T>C, NC_000001.10:g.150201487T>G, XM_005245513.5:c.411A>G, XM_005245513.5:c.411A>C, XM_005245513.4:c.411A>G, XM_005245513.4:c.411A>C, XM_005245513.3:c.411A>G, XM_005245513.3:c.411A>C, XM_005245513.2:c.411A>G, XM_005245513.2:c.411A>C, XM_005245513.1:c.411A>G, XM_005245513.1:c.411A>C, NM_030920.5:c.411A>G, NM_030920.5:c.411A>C, NM_030920.4:c.411A>G, NM_030920.4:c.411A>C, XM_005245514.5:c.411A>G, XM_005245514.5:c.411A>C, XM_005245514.4:c.411A>G, XM_005245514.4:c.411A>C, XM_005245514.3:c.411A>G, XM_005245514.3:c.411A>C, XM_005245514.2:c.411A>G, XM_005245514.2:c.411A>C, XM_005245514.1:c.411A>G, XM_005245514.1:c.411A>C, NM_001136478.4:c.288A>G, NM_001136478.4:c.288A>C, NM_001136478.3:c.288A>G, NM_001136478.3:c.288A>C, XM_017002418.3:c.411A>G, XM_017002418.3:c.411A>C, XM_017002418.2:c.411A>G, XM_017002418.2:c.411A>C, XM_017002418.1:c.411A>G, XM_017002418.1:c.411A>C, NM_001136479.3:c.267A>G, NM_001136479.3:c.267A>C, NM_001136479.2:c.267A>G, NM_001136479.2:c.267A>C, NM_001280559.2:c.411A>G, NM_001280559.2:c.411A>C, NM_001280559.1:c.411A>G, NM_001280559.1:c.411A>C, XP_005245570.1:p.Glu137Asp, NP_112182.1:p.Glu137Asp, XP_005245571.1:p.Glu137Asp, NP_001129950.1:p.Glu96Asp, XP_016857907.1:p.Glu137Asp, NP_001129951.1:p.Glu89Asp, NP_001267488.1:p.Glu137Asp
              17.
              20.

              rs1332903789 has merged into rs1231400041 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CTCCTC>-,CTC [Show Flanks]
                Chromosome:
                1:150226725 (GRCh38)
                1:150199057 (GRCh37)
                Canonical SPDI:
                NC_000001.11:150226719:TCCTCCTCCTC:TCCTC,NC_000001.11:150226719:TCCTCCTCCTC:TCCTCCTC
                Gene:
                ANP32E (Varview)
                Functional Consequence:
                inframe_deletion,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TCCTCCTC=0./0 (ALFA)
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.150226722CTC[1], NC_000001.11:g.150226722CTC[2], NW_003871055.3:g.7042135CTC[1], NW_003871055.3:g.7042135CTC[2], NC_000001.10:g.150199054CTC[1], NC_000001.10:g.150199054CTC[2], XM_005245513.5:c.561GGA[1], XM_005245513.5:c.561GGA[2], XM_005245513.4:c.561GGA[1], XM_005245513.4:c.561GGA[2], XM_005245513.3:c.561GGA[1], XM_005245513.3:c.561GGA[2], XM_005245513.2:c.561GGA[1], XM_005245513.2:c.561GGA[2], XM_005245513.1:c.561GGA[1], XM_005245513.1:c.561GGA[2], NM_030920.5:c.561GGA[1], NM_030920.5:c.561GGA[2], NM_030920.4:c.561GGA[1], NM_030920.4:c.561GGA[2], XM_005245514.5:c.561GGA[1], XM_005245514.5:c.561GGA[2], XM_005245514.4:c.561GGA[1], XM_005245514.4:c.561GGA[2], XM_005245514.3:c.561GGA[1], XM_005245514.3:c.561GGA[2], XM_005245514.2:c.561GGA[1], XM_005245514.2:c.561GGA[2], XM_005245514.1:c.561GGA[1], XM_005245514.1:c.561GGA[2], NM_001136478.4:c.438GGA[1], NM_001136478.4:c.438GGA[2], NM_001136478.3:c.438GGA[1], NM_001136478.3:c.438GGA[2], XM_017002418.3:c.561GGA[1], XM_017002418.3:c.561GGA[2], XM_017002418.2:c.561GGA[1], XM_017002418.2:c.561GGA[2], XM_017002418.1:c.561GGA[1], XM_017002418.1:c.561GGA[2], NM_001136479.3:c.417GGA[1], NM_001136479.3:c.417GGA[2], NM_001136479.2:c.417GGA[1], NM_001136479.2:c.417GGA[2], NM_001280559.2:c.561GGA[1], NM_001280559.2:c.561GGA[2], NM_001280559.1:c.561GGA[1], NM_001280559.1:c.561GGA[2], NM_001280560.2:c.395GGA[1], NM_001280560.2:c.395GGA[2], NM_001280560.1:c.395GGA[1], NM_001280560.1:c.395GGA[2], XP_005245570.1:p.Glu193_Glu194del, XP_005245570.1:p.Glu194del, NP_112182.1:p.Glu193_Glu194del, NP_112182.1:p.Glu194del, XP_005245571.1:p.Glu193_Glu194del, XP_005245571.1:p.Glu194del, NP_001129950.1:p.Glu152_Glu153del, NP_001129950.1:p.Glu153del, XP_016857907.1:p.Glu193_Glu194del, XP_016857907.1:p.Glu194del, NP_001129951.1:p.Glu145_Glu146del, NP_001129951.1:p.Glu146del, NP_001267488.1:p.Glu193_Glu194del, NP_001267488.1:p.Glu194del, NP_001267489.1:p.Arg133_Arg134del, NP_001267489.1:p.Arg134del

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