Canonical Allele Identifier: CA1908773159

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493531_49493532delinsTA , CM000672.2:g.49493531_49493532delinsTA	GRCh38
NC_000010.10:g.50701577_50701578delinsTA , CM000672.1:g.50701577_50701578delinsTA	GRCh37
NC_000010.9:g.50371583_50371584delinsTA	NCBI36
NG_009442.1:g.50570_50571delinsTA , LRG_465:g.50570_50571delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-280_1686-279delinsTA MANE Select	ENSP00000348089.5:n.1686-280_1686-279delinsTA
ENST00000681632.1:n.1764-280_1764-279delinsTA
ENST00000681659.1:c.1527-280_1527-279delinsTA	ENSP00000505631.1:n.1527-280_1527-279delinsTA
ENST00000355832.9:c.1686-280_1686-279delinsTA	ENSP00000348089.5:n.1686-280_1686-279delinsTA
ENST00000475116.1:n.275+7006_275+7007delinsTA
ENST00000623073.3:c.87-280_87-279delinsTA	ENSP00000485650.1:n.87-280_87-279delinsTA
ENST00000623115.3:c.-70+7006_-70+7007delinsTA	ENSP00000485321.1:n.-70+7006_-70+7007delinsTA
ENST00000623318.1:c.87-280_87-279delinsTA	ENSP00000485423.1:n.87-280_87-279delinsTA
NM_000124.3:c.1686-280_1686-279delinsTA	NP_000115.1:n.1686-280_1686-279delinsTA
NM_001346440.1:c.1686-280_1686-279delinsTA	NP_001333369.1:n.1686-280_1686-279delinsTA
NM_000124.4:c.1686-280_1686-279delinsTA MANE Select	NP_000115.1:n.1686-280_1686-279delinsTA
NM_001346440.2:c.1686-280_1686-279delinsTA	NP_001333369.1:n.1686-280_1686-279delinsTA