Canonical Allele Identifier: CA1908745052

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460371A= , CM000672.2:g.49460371A=	GRCh38
NC_000010.10:g.50668417A= , CM000672.1:g.50668417A=	GRCh37
NC_000010.9:g.50338423A=	NCBI36
NG_009442.1:g.83731T= , LRG_465:g.83731T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4062+2T= MANE Select	ENSP00000348089.5:n.4062+2T=
ENST00000679552.1:n.1135T=
ENST00000679871.1:n.1208+2T=
ENST00000679974.1:n.1111+2T=
ENST00000681632.1:n.5465+2T=
ENST00000681659.1:c.3903+2T=	ENSP00000505631.1:n.3903+2T=
ENST00000355832.9:c.4062+2T=	ENSP00000348089.5:n.4062+2T=
ENST00000465653.1:n.386T=
ENST00000623073.3:c.*2358+2T=	ENSP00000485650.1:n.*2358+2T=
ENST00000623115.3:c.2172+2T=	ENSP00000485321.1:n.2172+2T=
ENST00000624341.3:c.1894+2T=
NM_000124.3:c.4062+2T=	NP_000115.1:n.4062+2T=
XR_945953.1:n.243-11194A=
NM_001346440.1:c.4062+2T=	NP_001333369.1:n.4062+2T=
NM_000124.4:c.4062+2T= MANE Select	NP_000115.1:n.4062+2T=
NM_001346440.2:c.4062+2T=	NP_001333369.1:n.4062+2T=