Canonical Allele Identifier: CA1908749663

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470968G= , CM000672.2:g.49470968G=	GRCh38
NC_000010.10:g.50679014G= , CM000672.1:g.50679014G=	GRCh37
NC_000010.9:g.50349020G=	NCBI36
NG_009442.1:g.73134C= , LRG_465:g.73134C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3070+7C= MANE Select	ENSP00000348089.5:n.3070+7C=
ENST00000679552.1:n.142-79C=
ENST00000679871.1:n.216+7C=
ENST00000679974.1:n.120-79C=
ENST00000681632.1:n.4473+7C=
ENST00000681659.1:c.2911+7C=	ENSP00000505631.1:n.2911+7C=
ENST00000355832.9:c.3070+7C=	ENSP00000348089.5:n.3070+7C=
ENST00000623073.3:c.*1366+7C=	ENSP00000485650.1:n.*1366+7C=
ENST00000623115.3:c.1180+7C=	ENSP00000485321.1:n.1180+7C=
ENST00000624341.3:c.902+7C=
NM_000124.3:c.3070+7C=	NP_000115.1:n.3070+7C=
XR_945953.1:n.243-597G=
NM_001346440.1:c.3070+7C=	NP_001333369.1:n.3070+7C=
NM_000124.4:c.3070+7C= MANE Select	NP_000115.1:n.3070+7C=
NM_001346440.2:c.3070+7C=	NP_001333369.1:n.3070+7C=