Linked Data
ClinVar Variation Id:
5443
dbSNP Id:
rs730880274
ExAC:
1:168274298 CA / C
gnomAD v2:
1-168274298-CA-C
gnomAD v3:
1-168305060-CA-C
gnomAD v4:
1-168305060-CA-C
MyVariant Identifiers:
chr1:g.168274300del (hg19)
chr1:g.168274299del (hg19)
chr1:g.168305062del (hg38)
chr1:g.168305061del (hg38)
PubMed:
PMID:15476446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168305062del , CM000663.2:g.168305062del | GRCh38 |
| NC_000001.10:g.168274300del , CM000663.1:g.168274300del | GRCh37 |
| NC_000001.9:g.166540924del | NCBI36 |
| NG_008244.1:g.29023del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.782del MANE Select | ENSP00000356795.3:p.Asn261IlefsTer? | |
| ENST00000367821.7:c.782del | ENSP00000356795.3:p.Asn261IlefsTer? | |
| ENST00000431969.5:c.525-3680del | ||
| ENST00000441464.1:c.279del | ||
| NM_005149.2:c.782del | NP_005140.1:p.Asn261IlefsTer? | |
| NM_005149.3:c.782del MANE Select | NP_005140.1:p.Asn261IlefsTer? |