Linked Data
ClinVar Variation Id:
204174
ClinVar RCV Id:
RCV000186381
dbSNP Id:
rs180177278
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868948del , CM000664.2:g.240868948del | GRCh38 |
| NC_000002.11:g.241808365del , CM000664.1:g.241808365del | GRCh37 |
| NC_000002.10:g.241457038del | NCBI36 |
| NG_008005.1:g.5204del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.83del MANE Select | ENSP00000302620.3:p.Pro28LeufsTer18 | |
| ENST00000307503.3:c.83del | ENSP00000302620.3:p.Pro28LeufsTer18 | |
| ENST00000472436.1:n.103del | ||
| NM_000030.2:c.83del | NP_000021.1:p.Pro28LeufsTer18 | |
| XR_924060.1:n.405+1286del | ||
| NM_000030.3:c.83del MANE Select | NP_000021.1:p.Pro28LeufsTer18 |