Linked Data
ClinVar Variation Id:
441005
ClinVar RCV Id:
RCV000509163
dbSNP Id:
rs751218576
ExAC:
1:62916271 CA / C
gnomAD v2:
1-62916271-CA-C
gnomAD v3:
1-62450600-CA-C
gnomAD v4:
1-62450600-CA-C
COSMIC:
COSM1343787
MyVariant Identifiers:
chr1:g.62916279del (hg19)
chr1:g.62916272del (hg19)
chr1:g.62450608del (hg38)
chr1:g.62450601del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62450608del , CM000663.2:g.62450608del | GRCh38 |
| NC_000001.10:g.62916279del , CM000663.1:g.62916279del | GRCh37 |
| NC_000001.9:g.62688867del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1985del MANE Select | ENSP00000343526.4:p.Asn662MetfsTer2 | |
| ENST00000339950.4:c.1985del | ENSP00000343526.4:p.Asn662MetfsTer2 | |
| ENST00000371146.5:c.1985del | ENSP00000360188.1:p.Asn662MetfsTer2 | |
| NM_001017415.1:c.1985del | NP_001017415.1:p.Asn662MetfsTer2 | |
| NM_001017416.1:c.1985del | NP_001017416.1:p.Asn662MetfsTer2 | |
| NM_003368.4:c.1985del | NP_003359.3:p.Asn662MetfsTer2 | |
| NM_003368.5:c.1985del MANE Select | NP_003359.3:p.Asn662MetfsTer2 | |
| NM_001017415.2:c.1985del | NP_001017415.1:p.Asn662MetfsTer2 | |
| NM_001017416.2:c.1985del | NP_001017416.1:p.Asn662MetfsTer2 |