Linked Data
ClinVar Variation Id:
2699
ClinVar RCV Id:
RCV001060196
dbSNP Id:
rs387906281
ExAC:
9:101980426 AC / A
gnomAD v2:
9-101980426-AC-A
gnomAD v3:
9-99218144-AC-A
gnomAD v4:
9-99218144-AC-A
MyVariant Identifiers:
chr9:g.101980427del (hg19)
chr9:g.99218146del (hg38)
chr9:g.99218145del (hg38)
PubMed:
PMID:12684507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218147del , CM000671.2:g.99218147del | GRCh38 |
| NC_000009.11:g.101980429del , CM000671.1:g.101980429del | GRCh37 |
| NC_000009.10:g.101020250del | NCBI36 |
| NG_008928.1:g.8820del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476832.2:c.1040del MANE Select | ENSP00000417764.1:p.Gly347ValfsTer27 | |
| ENST00000238477.5:c.*782del | ENSP00000432675.2:n.*782del | |
| ENST00000319033.7:c.761del | ENSP00000326609.6:p.Gly254ValfsTer27 | |
| ENST00000476832.1:c.1040del | ENSP00000417764.1:p.Gly347ValfsTer27 | |
| NM_033087.3:c.1040del | NP_149078.1:p.Gly347ValfsTer27 | |
| NR_024532.1:n.1269del | ||
| NM_033087.4:c.1040del MANE Select | NP_149078.1:p.Gly347ValfsTer27 | |
| NR_024532.2:n.1247del |