Canonical Allele Identifier: CA1908773203

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493573_49493576delinsTACA , CM000672.2:g.49493573_49493576delinsTACA	GRCh38
NC_000010.10:g.50701619_50701622delinsTACA , CM000672.1:g.50701619_50701622delinsTACA	GRCh37
NC_000010.9:g.50371625_50371628delinsTACA	NCBI36
NG_009442.1:g.50526_50529delinsTGTA , LRG_465:g.50526_50529delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-324_1686-321delinsTGTA MANE Select	ENSP00000348089.5:n.1686-324_1686-321delinsTGTA
ENST00000681632.1:n.1764-324_1764-321delinsTGTA
ENST00000681659.1:c.1527-324_1527-321delinsTGTA	ENSP00000505631.1:n.1527-324_1527-321delinsTGTA
ENST00000355832.9:c.1686-324_1686-321delinsTGTA	ENSP00000348089.5:n.1686-324_1686-321delinsTGTA
ENST00000475116.1:n.275+6962_275+6965delinsTGTA
ENST00000623073.3:c.87-324_87-321delinsTGTA	ENSP00000485650.1:n.87-324_87-321delinsTGTA
ENST00000623115.3:c.-70+6962_-70+6965delinsTGTA	ENSP00000485321.1:n.-70+6962_-70+6965delinsTGTA
ENST00000623318.1:c.87-324_87-321delinsTGTA	ENSP00000485423.1:n.87-324_87-321delinsTGTA
NM_000124.3:c.1686-324_1686-321delinsTGTA	NP_000115.1:n.1686-324_1686-321delinsTGTA
NM_001346440.1:c.1686-324_1686-321delinsTGTA	NP_001333369.1:n.1686-324_1686-321delinsTGTA
NM_000124.4:c.1686-324_1686-321delinsTGTA MANE Select	NP_000115.1:n.1686-324_1686-321delinsTGTA
NM_001346440.2:c.1686-324_1686-321delinsTGTA	NP_001333369.1:n.1686-324_1686-321delinsTGTA