Linked Data
ClinVar Variation Id:
555672
ClinVar RCV Id:
RCV000671536
dbSNP Id:
rs1555285393
gnomAD v4:
13-51941203-GAGA-G
MyVariant Identifiers:
chr13:g.51941204_51941206del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941206_51941208del , CM000675.2:g.51941206_51941208del | GRCh38 |
| NC_000013.10:g.52515342_52515344del , CM000675.1:g.52515342_52515344del | GRCh37 |
| NC_000013.9:g.51413343_51413345del | NCBI36 |
| NG_008806.1:g.75289_75291del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1081_*1083del | ENSP00000489512.2:n.*1081_*1083del | |
| ENST00000673864.2:c.*2175_*2177del | ENSP00000501045.2:n.*2175_*2177del | |
| ENST00000674147.2:c.2810_2812del | ENSP00000500964.2:p.Phe937del | |
| ENST00000242839.10:c.3431_3433del MANE Select | ENSP00000242839.5:p.Phe1144del | |
| ENST00000344297.9:c.2810_2812del | ENSP00000342559.5:p.Phe937del | |
| ENST00000400366.6:c.3098_3100del | ENSP00000383217.3:p.Phe1033del | |
| ENST00000448424.7:c.3179_3181del | ENSP00000416738.3:p.Phe1060del | |
| ENST00000673772.1:c.3197_3199del | ENSP00000501168.1:p.Phe1066del | |
| ENST00000673867.1:n.3570_3572del | ||
| ENST00000674126.1:n.3794_3796del | ||
| ENST00000674147.1:c.2366_2368del | ENSP00000500964.1:p.Phe789del | |
| ENST00000242839.8:c.3431_3433del | ENSP00000242839.4:p.Phe1144del | |
| ENST00000344297.8:c.2810_2812del | ENSP00000342559.5:p.Phe937del | |
| ENST00000400366.5:c.3098_3100del | ENSP00000383217.3:p.Phe1033del | |
| ENST00000400370.8:c.2141_2143del | ENSP00000383221.3:p.Phe714del | |
| ENST00000418097.7:c.3236_3238del | ENSP00000393343.2:p.Phe1079del | |
| ENST00000448424.6:c.3197_3199del | ENSP00000416738.2:p.Phe1066del | |
| ENST00000634296.1:c.1209_1211del | ||
| ENST00000634308.1:c.*532_*534del | ENSP00000489234.1:n.*532_*534del | |
| ENST00000634620.1:n.4175_4177del | ||
| ENST00000634810.1:n.2776_2778del | ||
| ENST00000634844.1:c.3287_3289del | ENSP00000489398.1:p.Phe1096del | |
| NM_000053.3:c.3431_3433del | NP_000044.2:p.Phe1144del | |
| NM_001005918.2:c.2810_2812del | NP_001005918.1:p.Phe937del | |
| NM_001243182.1:c.3098_3100del | NP_001230111.1:p.Phe1033del | |
| XM_005266423.2:c.3335_3337del | XP_005266480.1:p.Phe1112del | |
| XM_005266424.3:c.3335_3337del | XP_005266481.1:p.Phe1112del | |
| XM_005266427.2:c.3197_3199del | XP_005266484.1:p.Phe1066del | |
| XM_005266428.1:c.3179_3181del | XP_005266485.1:p.Phe1060del | |
| XM_005266430.3:c.3431_3433del | XP_005266487.1:p.Phe1144del | |
| XM_005266431.2:c.3395_3397del | XP_005266488.1:p.Phe1132del | |
| XM_005266432.2:c.2945_2947del | XP_005266489.1:p.Phe982del | |
| XM_006719837.2:c.3335_3337del | XP_006719900.1:p.Phe1112del | |
| XM_006719838.1:c.1247_1249del | XP_006719901.1:p.Phe416del | |
| XM_006719839.1:c.1064_1066del | XP_006719902.1:p.Phe355del | |
| XM_011535117.1:c.3335_3337del | XP_011533419.1:p.Phe1112del | |
| XM_011535118.1:c.3296_3298del | XP_011533420.1:p.Phe1099del | |
| XM_011535119.1:c.3248_3250del | XP_011533421.1:p.Phe1083del | |
| XM_011535120.1:c.3017_3019del | XP_011533422.1:p.Phe1006del | |
| XM_011535121.1:c.2918_2920del | XP_011533423.1:p.Phe973del | |
| XM_011535122.1:c.2099_2101del | XP_011533424.1:p.Phe700del | |
| XR_941601.1:n.3650_3652del | ||
| XR_941602.1:n.3650_3652del | ||
| XR_941603.1:n.3650_3652del | ||
| XR_941604.1:n.3650_3652del | ||
| NM_001330578.1:c.3197_3199del | NP_001317507.1:p.Phe1066del | |
| NM_001330579.1:c.3179_3181del | NP_001317508.1:p.Phe1060del | |
| XM_005266424.4:c.3335_3337del | XP_005266481.1:p.Phe1112del | |
| XM_005266430.4:c.3431_3433del | XP_005266487.1:p.Phe1144del | |
| XM_005266431.4:c.3395_3397del | XP_005266488.1:p.Phe1132del | |
| XM_006719837.3:c.3335_3337del | XP_006719900.1:p.Phe1112del | |
| XM_011535117.3:c.3335_3337del | XP_011533419.1:p.Phe1112del | |
| XM_017020627.1:c.3335_3337del | XP_016876116.1:p.Phe1112del | |
| NM_000053.4:c.3431_3433del MANE Select | NP_000044.2:p.Phe1144del | |
| NM_001005918.3:c.2810_2812del | NP_001005918.1:p.Phe937del | |
| NM_001330579.2:c.3179_3181del | NP_001317508.1:p.Phe1060del | |
| NM_001243182.2:c.3098_3100del | NP_001230111.1:p.Phe1033del | |
| NM_001330578.2:c.3197_3199del | NP_001317507.1:p.Phe1066del |