Canonical Allele Identifier: CA1908772746

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493217_49493221delinsGGACA , CM000672.2:g.49493217_49493221delinsGGACA	GRCh38
NC_000010.10:g.50701263_50701267delinsGGACA , CM000672.1:g.50701263_50701267delinsGGACA	GRCh37
NC_000010.9:g.50371269_50371273delinsGGACA	NCBI36
NG_009442.1:g.50881_50885delinsTGTCC , LRG_465:g.50881_50885delinsTGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1717_1721delinsTGTCC MANE Select	ENSP00000348089.5:p.Cys573=
ENST00000681632.1:n.1795_1799delinsTGTCC
ENST00000681659.1:c.1558_1562delinsTGTCC	ENSP00000505631.1:p.Cys520=
ENST00000355832.9:c.1717_1721delinsTGTCC	ENSP00000348089.5:p.Cys573=
ENST00000475116.1:n.275+7317_275+7321delinsTGTCC
ENST00000623073.3:c.118_122delinsTGTCC	ENSP00000485650.1:p.Cys40=
ENST00000623115.3:c.-70+7317_-70+7321delinsTGTCC	ENSP00000485321.1:n.-70+7317_-70+7321delinsTGTCC
ENST00000623318.1:c.118_122delinsTGTCC	ENSP00000485423.1:p.Cys40=
NM_000124.3:c.1717_1721delinsTGTCC	NP_000115.1:p.Cys573=
NM_001346440.1:c.1717_1721delinsTGTCC	NP_001333369.1:p.Cys573=
NM_000124.4:c.1717_1721delinsTGTCC MANE Select	NP_000115.1:p.Cys573=
NM_001346440.2:c.1717_1721delinsTGTCC	NP_001333369.1:p.Cys573=