Linked Data
ClinVar Variation Id:
7454
ClinVar RCV Id:
RCV000007880
dbSNP Id:
rs397518443
COSMIC:
COSM20948
PubMed:
PMID:10362809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223000del , CM000681.2:g.1223000del | GRCh38 |
| NC_000019.9:g.1222999del , CM000681.1:g.1222999del | GRCh37 |
| NC_000019.8:g.1173999del | NCBI36 |
| NG_007460.2:g.38594del , LRG_319:g.38594del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.936del | ENSP00000490268.2:p.Lys312AsnfsTer24 | |
| ENST00000585748.3:c.564del | ENSP00000477641.2:p.Lys188AsnfsTer24 | |
| ENST00000585851.2:c.762del | ENSP00000467912.2:p.Lys254AsnfsTer24 | |
| ENST00000326873.12:c.936del MANE Select | ENSP00000324856.6:p.Lys312AsnfsTer24 | |
| ENST00000652231.1:c.936del | ENSP00000498804.1:p.Lys312AsnfsTer24 | |
| ENST00000326873.11:c.936del | ENSP00000324856.6:p.Lys312AsnfsTer24 | |
| ENST00000586243.5:c.936del | ENSP00000467240.2:p.Lys312AsnfsTer24 | |
| ENST00000589152.5:n.1634del | ||
| ENST00000591133.2:n.907del | ||
| NM_000455.4:c.936del , LRG_319t1:c.936del | NP_000446.1:p.Lys312AsnfsTer24 | |
| XM_005259617.1:c.936del | XP_005259674.1:p.Lys312AsnfsTer24 | |
| XM_005259618.3:c.936del | XP_005259675.1:p.Lys312AsnfsTer24 | |
| XM_011528209.1:c.714del | XP_011526511.1:p.Lys238AsnfsTer24 | |
| XR_936204.1:n.1712del | ||
| XM_005259617.3:c.936del | XP_005259674.1:p.Lys312AsnfsTer24 | |
| XM_011528209.2:c.714del | XP_011526511.1:p.Lys238AsnfsTer24 | |
| XR_001753738.2:n.1742del | ||
| XR_001753739.1:n.1742del | ||
| XR_001753740.2:n.1712del | ||
| NM_000455.5:c.936del MANE Select | NP_000446.1:p.Lys312AsnfsTer24 |