Linked Data
ClinVar Variation Id:
372954
ClinVar RCV Id:
RCV000412821
dbSNP Id:
rs1057518098
gnomAD v3:
8-86643827-C-CATTA
gnomAD v4:
8-86643827-C-CATTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643830_86643833dup , CM000670.2:g.86643830_86643833dup | GRCh38 |
| NC_000008.10:g.87656058_87656061dup , CM000670.1:g.87656058_87656061dup | GRCh37 |
| NC_000008.9:g.87725174_87725177dup | NCBI36 |
| NG_016980.1:g.104845_104848dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1098_1101dup MANE Select | ENSP00000316605.5:p.Ala368Ter | |
| ENST00000681546.1:n.918_921dup | ||
| ENST00000681746.1:c.1098_1101dup | ENSP00000505959.1:p.Ala368Ter | |
| ENST00000320005.5:c.1098_1101dup | ENSP00000316605.5:p.Ala368Ter | |
| NM_019098.4:c.1098_1101dup | NP_061971.3:p.Ala368Ter | |
| XM_011517138.1:c.684_687dup | XP_011515440.1:p.Ala230Ter | |
| XM_011517138.2:c.684_687dup | XP_011515440.1:p.Ala230Ter | |
| NM_019098.5:c.1098_1101dup MANE Select | NP_061971.3:p.Ala368Ter |