Linked Data
ClinVar Variation Id:
438160
dbSNP Id:
rs776880045
ExAC:
14:21780626 GA / G
gnomAD v2:
14-21780626-GA-G
gnomAD v3:
14-21312467-GA-G
gnomAD v4:
14-21312467-GA-G
MyVariant Identifiers:
chr14:g.21780630del (hg19)
chr14:g.21780627del (hg19)
chr14:g.21312471del (hg38)
chr14:g.21312468del (hg38)
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312471del , CM000676.2:g.21312471del | GRCh38 |
| NC_000014.8:g.21780630del , CM000676.1:g.21780630del | GRCh37 |
| NC_000014.7:g.20850470del | NCBI36 |
| NG_008933.1:g.29495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1116del MANE Select | ENSP00000382895.2:p.Lys372AsnfsTer3 | |
| ENST00000400017.6:c.1116del | ENSP00000382895.2:p.Lys372AsnfsTer3 | |
| ENST00000556336.5:c.1035del | ENSP00000450445.1:p.Lys345AsnfsTer3 | |
| ENST00000557771.5:c.1035del | ENSP00000451219.1:p.Lys345AsnfsTer3 | |
| NM_020366.3:c.1116del | NP_065099.3:p.Lys372AsnfsTer3 | |
| XM_011536983.1:c.1083del | XP_011535285.1:p.Lys361AsnfsTer3 | |
| NM_020366.4:c.1116del MANE Select | NP_065099.3:p.Lys372AsnfsTer3 |