Linked Data
ClinVar Variation Id:
204182
ClinVar RCV Id:
RCV000186389
dbSNP Id:
rs180177200
PubMed:
PMID:15963748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869331del , CM000664.2:g.240869331del | GRCh38 |
| NC_000002.11:g.241808748del , CM000664.1:g.241808748del | GRCh37 |
| NC_000002.10:g.241457421del | NCBI36 |
| NG_008005.1:g.5587del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.327del MANE Select | ENSP00000302620.3:p.Gln110SerfsTer10 | |
| ENST00000307503.3:c.327del | ENSP00000302620.3:p.Gln110SerfsTer10 | |
| ENST00000472436.1:n.347del | ||
| NM_000030.2:c.327del | NP_000021.1:p.Gln110SerfsTer10 | |
| XR_924060.1:n.405+906del | ||
| NM_000030.3:c.327del MANE Select | NP_000021.1:p.Gln110SerfsTer10 |