Canonical Allele Identifier: CA1908750317

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472472T= , CM000672.2:g.49472472T=	GRCh38
NC_000010.10:g.50680518T= , CM000672.1:g.50680518T=	GRCh37
NC_000010.9:g.50350524T=	NCBI36
NG_009442.1:g.71630A= , LRG_465:g.71630A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2830-2A= MANE Select	NP_000115.1:n.2830-2A=
ENST00000355832.10:c.2830-2A= MANE Select	ENSP00000348089.5:n.2830-2A=
NM_000124.3:c.2830-2A=	NP_000115.1:n.2830-2A=
NM_001346440.1:c.2830-2A=	NP_001333369.1:n.2830-2A=
NM_001346440.2:c.2830-2A=	NP_001333369.1:n.2830-2A=
ENST00000355832.9:c.2830-2A=	ENSP00000348089.5:n.2830-2A=
ENST00000623073.3:c.*1126-2A=	ENSP00000485650.1:n.*1126-2A=
ENST00000623115.3:c.940-2A=	ENSP00000485321.1:n.940-2A=
ENST00000624341.3:c.662-2A=
ENST00000681632.1:n.4231A=
ENST00000681659.1:c.2671-2A=	ENSP00000505631.1:n.2671-2A=
XR_945953.1:n.690-231T=