Linked Data
ClinVar Variation Id:
1076913
ClinVar RCV Id:
RCV001390974
dbSNP Id:
rs1446982305
gnomAD v2:
19-7504852-TG-T
gnomAD v4:
19-7439966-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7439967del , CM000681.2:g.7439967del | GRCh38 |
| NC_000019.9:g.7504853del , CM000681.1:g.7504853del | GRCh37 |
| NC_000019.8:g.7410853del | NCBI36 |
| NG_047135.1:g.96057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319670.14:c.-71-377del | ENSP00000319200.8:n.-71-377del | |
| ENST00000359920.11:c.-136del | ENSP00000352995.5:n.-136del | |
| ENST00000594665.2:c.-71-377del | ENSP00000470729.2:n.-71-377del | |
| ENST00000617428.4:c.-226-222del | ENSP00000482647.4:n.-226-222del | |
| ENST00000668164.2:c.968-377del MANE Select | ENSP00000499655.2:n.968-377del | |
| ENST00000319670.13:c.-71-377del | ENSP00000319200.7:n.-71-377del | |
| ENST00000359920.10:c.27del | ENSP00000352995.4:p.Ser11ProfsTer? | |
| ENST00000599752.5:c.-226-222del | ENSP00000471597.1:n.-226-222del | |
| ENST00000617428.2:c.204-377del | ||
| NM_001130955.1:c.27del | NP_001124427.1:p.Ser11ProfsTer? | |
| NM_015318.3:c.-71-377del | NP_056133.2:n.-71-377del | |
| XM_005272464.3:c.1163-377del | XP_005272521.1:n.1163-377del | |
| XM_006722705.2:c.968-377del | XP_006722768.1:n.968-377del | |
| XM_006722706.2:c.968-377del | XP_006722769.1:n.968-377del | |
| XM_006722708.2:c.-226-222del | XP_006722771.1:n.-226-222del | |
| XM_006722709.2:c.-71-377del | XP_006722772.1:n.-71-377del | |
| XM_011527835.1:c.1163-377del | XP_011526137.1:n.1163-377del | |
| XM_011527836.1:c.1163-377del | XP_011526138.1:n.1163-377del | |
| XM_011527837.1:c.1163-377del | XP_011526139.1:n.1163-377del | |
| XM_011527838.1:c.968-377del | XP_011526140.1:n.968-377del | |
| XM_011527839.1:c.920-377del | XP_011526141.1:n.920-377del | |
| XM_011527840.1:c.-71-377del | XP_011526142.1:n.-71-377del | |
| XM_011527841.1:c.1163-377del | XP_011526143.1:n.1163-377del | |
| XM_005272464.4:c.1163-377del | XP_005272521.1:n.1163-377del | |
| XM_006722705.3:c.968-377del | XP_006722768.1:n.968-377del | |
| XM_006722706.3:c.968-377del | XP_006722769.1:n.968-377del | |
| XM_011527835.2:c.1163-377del | XP_011526137.1:n.1163-377del | |
| XM_011527836.2:c.1163-377del | XP_011526138.1:n.1163-377del | |
| XM_011527837.2:c.1163-377del | XP_011526139.1:n.1163-377del | |
| XM_011527838.3:c.968-377del | XP_011526140.1:n.968-377del | |
| XM_011527839.2:c.920-377del | XP_011526141.1:n.920-377del | |
| XM_011527840.2:c.-71-377del | XP_011526142.1:n.-71-377del | |
| XM_011527841.2:c.1163-377del | XP_011526143.1:n.1163-377del | |
| NM_001130955.2:c.-136del | NP_001124427.2:n.-136del | |
| NM_001367823.1:c.968-377del MANE Select | NP_001354752.1:n.968-377del | |
| NM_001367824.1:c.-226-222del | NP_001354753.1:n.-226-222del | |
| NM_015318.4:c.-71-377del | NP_056133.2:n.-71-377del |