Canonical Allele Identifier: CA2843222359

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461594dup , CM000672.2:g.49461594dup	GRCh38
NC_000010.10:g.50669640dup , CM000672.1:g.50669640dup	GRCh37
NC_000010.9:g.50339646dup	NCBI36
NG_009442.1:g.82508dup , LRG_465:g.82508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-38dup MANE Select	ENSP00000348089.5:n.3779-38dup
ENST00000679552.1:n.850-38dup
ENST00000679871.1:n.925-38dup
ENST00000679974.1:n.828-38dup
ENST00000681632.1:n.5182-38dup
ENST00000681659.1:c.3620-38dup	ENSP00000505631.1:n.3620-38dup
ENST00000355832.9:c.3779-38dup	ENSP00000348089.5:n.3779-38dup
ENST00000465653.1:n.101-38dup
ENST00000623073.3:c.*2075-38dup	ENSP00000485650.1:n.*2075-38dup
ENST00000623115.3:c.1889-38dup	ENSP00000485321.1:n.1889-38dup
ENST00000624341.3:c.1611-38dup
NM_000124.3:c.3779-38dup	NP_000115.1:n.3779-38dup
XR_945953.1:n.243-9971dup
NM_001346440.1:c.3779-38dup	NP_001333369.1:n.3779-38dup
NM_000124.4:c.3779-38dup MANE Select	NP_000115.1:n.3779-38dup
NM_001346440.2:c.3779-38dup	NP_001333369.1:n.3779-38dup