Linked Data
ClinVar Variation Id:
89002
ClinVar RCV Id:
RCV000074486
dbSNP Id:
rs398122417
PubMed:
PMID:24076603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644563_23644564del , CM000677.2:g.23644563_23644564del | GRCh38 |
| NC_000015.9:g.23889710_23889711del , CM000677.1:g.23889710_23889711del | GRCh37 |
| NC_000015.8:g.21440803_21440804del | NCBI36 |
| NG_016776.1:g.8285_8286del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650528.1:c.3181_3182del MANE Select | ENSP00000497810.1:p.Ile1061HisfsTer7 | |
| ENST00000532292.2:c.3181_3182del | ENSP00000433433.2:p.Ile1061HisfsTer7 | |
| NM_019066.4:c.3181_3182del | NP_061939.3:p.Ile1061HisfsTer7 | |
| NM_019066.5:c.3181_3182del MANE Select | NP_061939.3:p.Ile1061HisfsTer7 |