Canonical Allele Identifier: CA1908772158

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492944_49492946delinsCTG , CM000672.2:g.49492944_49492946delinsCTG	GRCh38
NC_000010.10:g.50700990_50700992delinsCTG , CM000672.1:g.50700990_50700992delinsCTG	GRCh37
NC_000010.9:g.50370996_50370998delinsCTG	NCBI36
NG_009442.1:g.51156_51158delinsCAG , LRG_465:g.51156_51158delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+171_1821+173delinsCAG MANE Select	ENSP00000348089.5:n.1821+171_1821+173deli...
ENST00000681632.1:n.1899+171_1899+173delinsCAG
ENST00000681659.1:c.1662+171_1662+173delinsCAG	ENSP00000505631.1:n.1662+171_1662+173deli...
ENST00000355832.9:c.1821+171_1821+173delinsCAG	ENSP00000348089.5:n.1821+171_1821+173deli...
ENST00000475116.1:n.275+7592_275+7594delinsCAG
ENST00000623073.3:c.222+171_222+173delinsCAG	ENSP00000485650.1:n.222+171_222+173delins...
ENST00000623115.3:c.-70+7592_-70+7594delinsCAG	ENSP00000485321.1:n.-70+7592_-70+7594deli...
ENST00000623318.1:c.222+171_222+173delinsCAG	ENSP00000485423.1:n.222+171_222+173delins...
NM_000124.3:c.1821+171_1821+173delinsCAG	NP_000115.1:n.1821+171_1821+173delinsCAG
NM_001346440.1:c.1821+171_1821+173delinsCAG	NP_001333369.1:n.1821+171_1821+173delinsC...
NM_000124.4:c.1821+171_1821+173delinsCAG MANE Select	NP_000115.1:n.1821+171_1821+173delinsCAG
NM_001346440.2:c.1821+171_1821+173delinsCAG	NP_001333369.1:n.1821+171_1821+173delinsC...