Linked Data
ClinVar Variation Id:
161649
ClinVar RCV Id:
RCV000149185
dbSNP Id:
rs193920986
COSMIC:
COSM1178804
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78273680del , CM000685.2:g.78273680del | GRCh38 |
| NC_000023.10:g.77529177del , CM000685.1:g.77529177del | GRCh37 |
| NC_000023.9:g.77415833del | NCBI36 |
| NG_012809.1:g.58912del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373304.4:c.68del MANE Select | ENSP00000362401.3:p.Asn23IlefsTer10 | |
| ENST00000373304.3:c.68del | ENSP00000362401.3:p.Asn23IlefsTer10 | |
| ENST00000614798.1:c.68del | ENSP00000478492.1:p.Asn23IlefsTer10 | |
| NM_001282186.1:c.68del | NP_001269115.1:p.Asn23IlefsTer10 | |
| NM_001282187.1:c.68del | NP_001269116.1:p.Asn23IlefsTer10 | |
| NM_001282188.1:c.68del | NP_001269117.1:p.Asn23IlefsTer10 | |
| NM_006639.3:c.68del | NP_006630.1:p.Asn23IlefsTer10 | |
| NM_006639.4:c.68del MANE Select | NP_006630.1:p.Asn23IlefsTer10 | |
| NM_001282187.2:c.68del | NP_001269116.1:p.Asn23IlefsTer10 | |
| NM_001282188.2:c.68del | NP_001269117.1:p.Asn23IlefsTer10 | |
| NM_001282186.2:c.68del | NP_001269115.1:p.Asn23IlefsTer10 |