Canonical Allele Identifier: CA1908772881

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493297_49493299delinsTAC , CM000672.2:g.49493297_49493299delinsTAC	GRCh38
NC_000010.10:g.50701343_50701345delinsTAC , CM000672.1:g.50701343_50701345delinsTAC	GRCh37
NC_000010.9:g.50371349_50371351delinsTAC	NCBI36
NG_009442.1:g.50803_50805delinsGTA , LRG_465:g.50803_50805delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-47_1686-45delinsGTA MANE Select	ENSP00000348089.5:n.1686-47_1686-45delinsGTA
ENST00000681632.1:n.1764-47_1764-45delinsGTA
ENST00000681659.1:c.1527-47_1527-45delinsGTA	ENSP00000505631.1:n.1527-47_1527-45delinsGTA
ENST00000355832.9:c.1686-47_1686-45delinsGTA	ENSP00000348089.5:n.1686-47_1686-45delinsGTA
ENST00000475116.1:n.275+7239_275+7241delinsGTA
ENST00000623073.3:c.87-47_87-45delinsGTA	ENSP00000485650.1:n.87-47_87-45delinsGTA
ENST00000623115.3:c.-70+7239_-70+7241delinsGTA	ENSP00000485321.1:n.-70+7239_-70+7241delinsGTA
ENST00000623318.1:c.87-47_87-45delinsGTA	ENSP00000485423.1:n.87-47_87-45delinsGTA
NM_000124.3:c.1686-47_1686-45delinsGTA	NP_000115.1:n.1686-47_1686-45delinsGTA
NM_001346440.1:c.1686-47_1686-45delinsGTA	NP_001333369.1:n.1686-47_1686-45delinsGTA
NM_000124.4:c.1686-47_1686-45delinsGTA MANE Select	NP_000115.1:n.1686-47_1686-45delinsGTA
NM_001346440.2:c.1686-47_1686-45delinsGTA	NP_001333369.1:n.1686-47_1686-45delinsGTA