Canonical Allele Identifier: CA1908778443

Gene: ERCC6

Linked Data

• dbSNP Id: rs1851336773

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500406_49500407dup , CM000672.2:g.49500406_49500407dup	GRCh38
NC_000010.10:g.50708452_50708453dup , CM000672.1:g.50708452_50708453dup	GRCh37
NC_000010.9:g.50378458_50378459dup	NCBI36
NG_009442.1:g.43698_43699dup , LRG_465:g.43698_43699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+134_1685+135dup MANE Select	ENSP00000348089.5:n.1685+134_1685+135dup
ENST00000681632.1:n.1763+134_1763+135dup
ENST00000681659.1:c.1526+5480_1526+5481dup	ENSP00000505631.1:n.1526+5480_1526+5481dup
ENST00000355832.9:c.1685+134_1685+135dup	ENSP00000348089.5:n.1685+134_1685+135dup
ENST00000475116.1:n.275+134_275+135dup
ENST00000623073.3:c.86+134_86+135dup	ENSP00000485650.1:n.86+134_86+135dup
ENST00000623115.3:c.-70+134_-70+135dup	ENSP00000485321.1:n.-70+134_-70+135dup
ENST00000623318.1:c.86+134_86+135dup	ENSP00000485423.1:n.86+134_86+135dup
NM_000124.3:c.1685+134_1685+135dup	NP_000115.1:n.1685+134_1685+135dup
NM_001346440.1:c.1685+134_1685+135dup	NP_001333369.1:n.1685+134_1685+135dup
NM_000124.4:c.1685+134_1685+135dup MANE Select	NP_000115.1:n.1685+134_1685+135dup
NM_001346440.2:c.1685+134_1685+135dup	NP_001333369.1:n.1685+134_1685+135dup