Canonical Allele Identifier: CA2832556850

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493326dup , CM000672.2:g.49493326dup	GRCh38
NC_000010.10:g.50701372dup , CM000672.1:g.50701372dup	GRCh37
NC_000010.9:g.50371378dup	NCBI36
NG_009442.1:g.50780dup , LRG_465:g.50780dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-70dup MANE Select	ENSP00000348089.5:n.1686-70dup
ENST00000681632.1:n.1764-70dup
ENST00000681659.1:c.1527-70dup	ENSP00000505631.1:n.1527-70dup
ENST00000355832.9:c.1686-70dup	ENSP00000348089.5:n.1686-70dup
ENST00000475116.1:n.275+7216dup
ENST00000623073.3:c.87-70dup	ENSP00000485650.1:n.87-70dup
ENST00000623115.3:c.-70+7216dup	ENSP00000485321.1:n.-70+7216dup
ENST00000623318.1:c.87-70dup	ENSP00000485423.1:n.87-70dup
NM_000124.3:c.1686-70dup	NP_000115.1:n.1686-70dup
NM_001346440.1:c.1686-70dup	NP_001333369.1:n.1686-70dup
NM_000124.4:c.1686-70dup MANE Select	NP_000115.1:n.1686-70dup
NM_001346440.2:c.1686-70dup	NP_001333369.1:n.1686-70dup