Canonical Allele Identifier: CA2787930309

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493373_49493374del , CM000672.2:g.49493373_49493374del	GRCh38
NC_000010.10:g.50701419_50701420del , CM000672.1:g.50701419_50701420del	GRCh37
NC_000010.9:g.50371425_50371426del	NCBI36
NG_009442.1:g.50728_50729del , LRG_465:g.50728_50729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-122_1686-121del MANE Select	ENSP00000348089.5:n.1686-122_1686-121del
ENST00000681632.1:n.1764-122_1764-121del
ENST00000681659.1:c.1527-122_1527-121del	ENSP00000505631.1:n.1527-122_1527-121del
ENST00000355832.9:c.1686-122_1686-121del	ENSP00000348089.5:n.1686-122_1686-121del
ENST00000475116.1:n.275+7164_275+7165del
ENST00000623073.3:c.87-122_87-121del	ENSP00000485650.1:n.87-122_87-121del
ENST00000623115.3:c.-70+7164_-70+7165del	ENSP00000485321.1:n.-70+7164_-70+7165del
ENST00000623318.1:c.87-122_87-121del	ENSP00000485423.1:n.87-122_87-121del
NM_000124.3:c.1686-122_1686-121del	NP_000115.1:n.1686-122_1686-121del
NM_001346440.1:c.1686-122_1686-121del	NP_001333369.1:n.1686-122_1686-121del
NM_000124.4:c.1686-122_1686-121del MANE Select	NP_000115.1:n.1686-122_1686-121del
NM_001346440.2:c.1686-122_1686-121del	NP_001333369.1:n.1686-122_1686-121del