Linked Data
ClinVar Variation Id:
133290
ClinVar RCV Id:
RCV000119803
dbSNP Id:
rs587777405
ExAC:
1:64097430 TC / T
gnomAD v2:
1-64097430-TC-T
gnomAD v3:
1-63631759-TC-T
gnomAD v4:
1-63631759-TC-T
MyVariant Identifiers:
chr1:g.64097432del (hg19)
chr1:g.64097431del (hg19)
chr1:g.63631761del (hg38)
chr1:g.63631760del (hg38)
PubMed:
PMID:24499211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63631761del , CM000663.2:g.63631761del | GRCh38 |
| NC_000001.10:g.64097432del , CM000663.1:g.64097432del | GRCh37 |
| NC_000001.9:g.63870020del | NCBI36 |
| NG_016966.1:g.43486del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371084.8:c.661del MANE Select | ENSP00000360125.3:p.Arg221ValfsTer13 | |
| ENST00000650546.1:c.661del | ENSP00000497812.1:p.Arg221ValfsTer13 | |
| ENST00000371083.4:c.715del | ENSP00000360124.4:p.Arg239ValfsTer13 | |
| ENST00000371084.7:c.661del | ENSP00000360125.3:p.Arg221ValfsTer13 | |
| ENST00000540265.5:c.70del | ENSP00000443449.1:p.Arg24ValfsTer13 | |
| NM_001172818.1:c.715del | NP_001166289.1:p.Arg239ValfsTer13 | |
| NM_001172819.1:c.70del | NP_001166290.1:p.Arg24ValfsTer13 | |
| NM_002633.2:c.661del | NP_002624.2:p.Arg221ValfsTer13 | |
| NM_002633.3:c.661del MANE Select | NP_002624.2:p.Arg221ValfsTer13 | |
| NM_001172819.2:c.70del | NP_001166290.1:p.Arg24ValfsTer13 |