Canonical Allele Identifier: CA1908778480

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500513_49500517delinsTGACA , CM000672.2:g.49500513_49500517delinsTGACA	GRCh38
NC_000010.10:g.50708559_50708563delinsTGACA , CM000672.1:g.50708559_50708563delinsTGACA	GRCh37
NC_000010.9:g.50378565_50378569delinsTGACA	NCBI36
NG_009442.1:g.43585_43589delinsTGTCA , LRG_465:g.43585_43589delinsTGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+21_1685+25delinsTGTCA MANE Select	ENSP00000348089.5:n.1685+21_1685+25delinsTGTCA
ENST00000681632.1:n.1763+21_1763+25delinsTGTCA
ENST00000681659.1:c.1526+5367_1526+5371delinsTGTCA	ENSP00000505631.1:n.1526+5367_1526+5371delinsTGTCA
ENST00000355832.9:c.1685+21_1685+25delinsTGTCA	ENSP00000348089.5:n.1685+21_1685+25delinsTGTCA
ENST00000475116.1:n.275+21_275+25delinsTGTCA
ENST00000623073.3:c.86+21_86+25delinsTGTCA	ENSP00000485650.1:n.86+21_86+25delinsTGTCA
ENST00000623115.3:c.-70+21_-70+25delinsTGTCA	ENSP00000485321.1:n.-70+21_-70+25delinsTGTCA
ENST00000623318.1:c.86+21_86+25delinsTGTCA	ENSP00000485423.1:n.86+21_86+25delinsTGTCA
NM_000124.3:c.1685+21_1685+25delinsTGTCA	NP_000115.1:n.1685+21_1685+25delinsTGTCA
NM_001346440.1:c.1685+21_1685+25delinsTGTCA	NP_001333369.1:n.1685+21_1685+25delinsTGTCA
NM_000124.4:c.1685+21_1685+25delinsTGTCA MANE Select	NP_000115.1:n.1685+21_1685+25delinsTGTCA
NM_001346440.2:c.1685+21_1685+25delinsTGTCA	NP_001333369.1:n.1685+21_1685+25delinsTGTCA