Canonical Allele Identifier: CA274714
Gene: ERCC6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190172
ClinVar RCV Id: RCV000170391
dbSNP Id: rs786205175

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49460429del , CM000672.2:g.49460429del GRCh38
NC_000010.10:g.50668475del , CM000672.1:g.50668475del GRCh37
NC_000010.9:g.50338481del NCBI36
NG_009442.1:g.83674del , LRG_465:g.83674del

Transcript Alleles

HGVS Amino-acid change
NM_000124.3:c.4007del VV NP_000115.1:p.Asn1336IlefsTer23
XR_945953.1:n.243-11136del
NM_001346440.1:c.4007del VV NP_001333369.1:p.Asn1336IlefsTer23
NM_000124.4:c.4007del VV MANE Preferred NP_000115.1:p.Asn1336IlefsTer23
ENST00000355832.9:c.4007del ENSP00000348089.5:p.Asn1336IlefsTer23
ENST00000465653.1:n.329del
ENST00000623073.3:c.*2303del ENSP00000485650.1:p.=
ENST00000623115.3:c.2117del ENSP00000485321.1:p.Asn706IlefsTer23
ENST00000624341.3:n.1839del