Canonical Allele Identifier: CA1908744538

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459241_49459244delinsAAAG , CM000672.2:g.49459241_49459244delinsAAAG	GRCh38
NC_000010.10:g.50667287_50667290delinsAAAG , CM000672.1:g.50667287_50667290delinsAAAG	GRCh37
NC_000010.9:g.50337293_50337296delinsAAAG	NCBI36
NG_009442.1:g.84858_84861delinsCTTT , LRG_465:g.84858_84861delinsCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-10_4063-7delinsCTTT MANE Select	ENSP00000348089.5:n.4063-10_4063-7delinsC...
ENST00000679552.1:n.2262_2265delinsCTTT
ENST00000679871.1:n.1209-10_1209-7delinsCTTT
ENST00000679974.1:n.1112-10_1112-7delinsCTTT
ENST00000681632.1:n.5466-10_5466-7delinsCTTT
ENST00000681659.1:c.3904-10_3904-7delinsCTTT	ENSP00000505631.1:n.3904-10_3904-7delinsC...
ENST00000355832.9:c.4063-10_4063-7delinsCTTT	ENSP00000348089.5:n.4063-10_4063-7delinsC...
ENST00000623073.3:c.*2359-10_*2359-7delinsCTTT	ENSP00000485650.1:n.*2359-10_*2359-7delin...
ENST00000623115.3:c.2173-10_2173-7delinsCTTT	ENSP00000485321.1:n.2173-10_2173-7delinsC...
ENST00000624341.3:c.1895-10_1895-7delinsCTTT
NM_000124.3:c.4063-10_4063-7delinsCTTT	NP_000115.1:n.4063-10_4063-7delinsCTTT
XR_945953.1:n.243-12324_243-12321delinsAAAG
NM_001346440.1:c.4063-10_4063-7delinsCTTT	NP_001333369.1:n.4063-10_4063-7delinsCTTT...
NM_000124.4:c.4063-10_4063-7delinsCTTT MANE Select	NP_000115.1:n.4063-10_4063-7delinsCTTT
NM_001346440.2:c.4063-10_4063-7delinsCTTT	NP_001333369.1:n.4063-10_4063-7delinsCTTT...