Linked Data
ClinVar Variation Id:
10261
ClinVar RCV Id:
RCV000010974
dbSNP Id:
rs387906455
ExAC:
X:154157685 AT / A
gnomAD v2:
X-154157685-AT-A
gnomAD v4:
X-154929410-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154929418del , CM000685.2:g.154929418del | GRCh38 |
| NC_000023.10:g.154157693del , CM000685.1:g.154157693del | GRCh37 |
| NC_000023.9:g.153810887del | NCBI36 |
| NG_011403.1:g.98313del | |
| NG_011403.2:g.98313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.4379del MANE Select | ENSP00000353393.4:p.Asn1460IlefsTer5 | |
| ENST00000360256.8:c.4379del | ENSP00000353393.4:p.Asn1460IlefsTer5 | |
| NM_000132.3:c.4379del | NP_000123.1:p.Asn1460IlefsTer5 | |
| XM_011531126.1:c.4274del | XP_011529428.1:p.Asn1425IlefsTer5 | |
| NM_000132.4:c.4379del MANE Select | NP_000123.1:p.Asn1460IlefsTer5 |