Linked Data
ClinVar Variation Id:
21632
dbSNP Id:
rs199422192
ExAC:
1:197059469 AT / A
gnomAD v4:
1-197090339-AT-A
MyVariant Identifiers:
chr1:g.197059474del (hg19)
chr1:g.197059470del (hg19)
chr1:g.197090344del (hg38)
chr1:g.197090340del (hg38)
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090344del , CM000663.2:g.197090344del | GRCh38 |
| NC_000001.10:g.197059474del , CM000663.1:g.197059474del | GRCh37 |
| NC_000001.9:g.195326097del | NCBI36 |
| NG_015867.1:g.61355del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2972del | ||
| ENST00000367409.9:c.9685del MANE Select | ENSP00000356379.4:p.Ile3229LeufsTer6 | |
| ENST00000680265.1:c.9907del | ENSP00000505384.1:p.Ile3303LeufsTer6 | |
| ENST00000680710.1:c.9661del | ENSP00000506676.1:p.Ile3221LeufsTer6 | |
| ENST00000294732.11:c.4930del | ENSP00000294732.7:p.Ile1644LeufsTer6 | |
| ENST00000367408.5:c.2680del | ENSP00000356378.1:p.Ile894LeufsTer6 | |
| ENST00000367409.8:c.9685del | ENSP00000356379.4:p.Ile3229LeufsTer6 | |
| ENST00000612785.1:c.3643del | ENSP00000479244.1:p.Ile1215LeufsTer6 | |
| NM_001206846.1:c.4930del | NP_001193775.1:p.Ile1644LeufsTer6 | |
| NM_018136.4:c.9685del | NP_060606.3:p.Ile3229LeufsTer6 | |
| NM_018136.5:c.9685del MANE Select | NP_060606.3:p.Ile3229LeufsTer6 | |
| NM_001206846.2:c.4930del | NP_001193775.1:p.Ile1644LeufsTer6 |