Canonical Allele Identifier: CA2839256607

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472548dup , CM000672.2:g.49472548dup	GRCh38
NC_000010.10:g.50680594dup , CM000672.1:g.50680594dup	GRCh37
NC_000010.9:g.50350600dup	NCBI36
NG_009442.1:g.71554dup , LRG_465:g.71554dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2830-78dup MANE Select	ENSP00000348089.5:n.2830-78dup
ENST00000681632.1:n.4155dup
ENST00000681659.1:c.2671-78dup	ENSP00000505631.1:n.2671-78dup
ENST00000355832.9:c.2830-78dup	ENSP00000348089.5:n.2830-78dup
ENST00000623073.3:c.*1126-78dup	ENSP00000485650.1:n.*1126-78dup
ENST00000623115.3:c.940-78dup	ENSP00000485321.1:n.940-78dup
ENST00000624341.3:c.662-78dup
NM_000124.3:c.2830-78dup	NP_000115.1:n.2830-78dup
XR_945953.1:n.690-155dup
NM_001346440.1:c.2830-78dup	NP_001333369.1:n.2830-78dup
NM_000124.4:c.2830-78dup MANE Select	NP_000115.1:n.2830-78dup
NM_001346440.2:c.2830-78dup	NP_001333369.1:n.2830-78dup