Canonical Allele Identifier: CA2787930251

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493310_49493311insACAG , CM000672.2:g.49493310_49493311insACAG	GRCh38
NC_000010.10:g.50701356_50701357insACAG , CM000672.1:g.50701356_50701357insACAG	GRCh37
NC_000010.9:g.50371362_50371363insACAG	NCBI36
NG_009442.1:g.50791_50792insCTGT , LRG_465:g.50791_50792insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-59_1686-58insCTGT MANE Select	ENSP00000348089.5:n.1686-59_1686-58insCTGT
ENST00000681632.1:n.1764-59_1764-58insCTGT
ENST00000681659.1:c.1527-59_1527-58insCTGT	ENSP00000505631.1:n.1527-59_1527-58insCTGT
ENST00000355832.9:c.1686-59_1686-58insCTGT	ENSP00000348089.5:n.1686-59_1686-58insCTGT
ENST00000475116.1:n.275+7227_275+7228insCTGT
ENST00000623073.3:c.87-59_87-58insCTGT	ENSP00000485650.1:n.87-59_87-58insCTGT
ENST00000623115.3:c.-70+7227_-70+7228insCTGT	ENSP00000485321.1:n.-70+7227_-70+7228insCTGT
ENST00000623318.1:c.87-59_87-58insCTGT	ENSP00000485423.1:n.87-59_87-58insCTGT
NM_000124.3:c.1686-59_1686-58insCTGT	NP_000115.1:n.1686-59_1686-58insCTGT
NM_001346440.1:c.1686-59_1686-58insCTGT	NP_001333369.1:n.1686-59_1686-58insCTGT
NM_000124.4:c.1686-59_1686-58insCTGT MANE Select	NP_000115.1:n.1686-59_1686-58insCTGT
NM_001346440.2:c.1686-59_1686-58insCTGT	NP_001333369.1:n.1686-59_1686-58insCTGT