Canonical Allele Identifier: CA1908745452

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461381_49461383delinsCCT , CM000672.2:g.49461381_49461383delinsCCT	GRCh38
NC_000010.10:g.50669427_50669429delinsCCT , CM000672.1:g.50669427_50669429delinsCCT	GRCh37
NC_000010.9:g.50339433_50339435delinsCCT	NCBI36
NG_009442.1:g.82719_82721delinsAGG , LRG_465:g.82719_82721delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3952_3954delinsAGG MANE Select	ENSP00000348089.5:p.Arg1318=
ENST00000679552.1:n.1023_1025delinsAGG
ENST00000679871.1:n.1098_1100delinsAGG
ENST00000679974.1:n.1001_1003delinsAGG
ENST00000681632.1:n.5355_5357delinsAGG
ENST00000681659.1:c.3793_3795delinsAGG	ENSP00000505631.1:p.Arg1265=
ENST00000355832.9:c.3952_3954delinsAGG	ENSP00000348089.5:p.Arg1318=
ENST00000465653.1:n.274_276delinsAGG
ENST00000623073.3:c.*2248_*2250delinsAGG	ENSP00000485650.1:n.*2248_*2250delinsAGG
ENST00000623115.3:c.2062_2064delinsAGG	ENSP00000485321.1:p.Arg688=
ENST00000624341.3:c.1784_1786delinsAGG
NM_000124.3:c.3952_3954delinsAGG	NP_000115.1:p.Arg1318=
XR_945953.1:n.243-10184_243-10182delinsCCT
NM_001346440.1:c.3952_3954delinsAGG	NP_001333369.1:p.Arg1318=
NM_000124.4:c.3952_3954delinsAGG MANE Select	NP_000115.1:p.Arg1318=
NM_001346440.2:c.3952_3954delinsAGG	NP_001333369.1:p.Arg1318=