Canonical Allele Identifier: CA658822044
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 557734
ClinVar RCV Id: RCV000673910
dbSNP Id: rs1554789393

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493117delinsTT , CM000672.2:g.49493117delinsTT GRCh38
NC_000010.10:g.50701163delinsTT , CM000672.1:g.50701163delinsTT GRCh37
NC_000010.9:g.50371169delinsTT NCBI36
NG_009442.1:g.50985delinsAA , LRG_465:g.50985delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1821delinsAA MANE Select ENSP00000348089.5:p.Glu608ArgfsTer27
ENST00000681632.1:n.1899delinsAA
ENST00000681659.1:c.1662delinsAA ENSP00000505631.1:p.Glu555ArgfsTer27
ENST00000355832.9:c.1821delinsAA ENSP00000348089.5:p.Glu608ArgfsTer27
ENST00000475116.1:n.275+7421delinsAA
ENST00000623073.3:c.222delinsAA ENSP00000485650.1:p.Val75SerfsTer7
ENST00000623115.3:c.-70+7421delinsAA ENSP00000485321.1:n.-70+7421delinsAA
ENST00000623318.1:c.222delinsAA ENSP00000485423.1:p.Glu75ArgfsTer27
NM_000124.3:c.1821delinsAA NP_000115.1:p.Glu608ArgfsTer27
NM_001346440.1:c.1821delinsAA NP_001333369.1:p.Glu608ArgfsTer27
NM_000124.4:c.1821delinsAA MANE Select NP_000115.1:p.Glu608ArgfsTer27
NM_001346440.2:c.1821delinsAA NP_001333369.1:p.Glu608ArgfsTer27