Canonical Allele Identifier: CA1908749376

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470378_49470381delinsCTCT , CM000672.2:g.49470378_49470381delinsCTCT	GRCh38
NC_000010.10:g.50678424_50678427delinsCTCT , CM000672.1:g.50678424_50678427delinsCTCT	GRCh37
NC_000010.9:g.50348430_50348433delinsCTCT	NCBI36
NG_009442.1:g.73721_73724delinsAGAG , LRG_465:g.73721_73724delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3579_3582delinsAGAG MANE Select	ENSP00000348089.5:p.Glu1193=
ENST00000679552.1:n.650_653delinsAGAG
ENST00000679871.1:n.725_728delinsAGAG
ENST00000679974.1:n.628_631delinsAGAG
ENST00000681632.1:n.4982_4985delinsAGAG
ENST00000681659.1:c.3420_3423delinsAGAG	ENSP00000505631.1:p.Glu1140=
ENST00000355832.9:c.3579_3582delinsAGAG	ENSP00000348089.5:p.Glu1193=
ENST00000623073.3:c.*1875_*1878delinsAGAG	ENSP00000485650.1:n.*1875_*1878delinsAGAG
ENST00000623115.3:c.1689_1692delinsAGAG	ENSP00000485321.1:p.Glu563=
ENST00000624341.3:c.1411_1414delinsAGAG
NM_000124.3:c.3579_3582delinsAGAG	NP_000115.1:p.Glu1193=
XR_945953.1:n.243-1187_243-1184delinsCTCT
NM_001346440.1:c.3579_3582delinsAGAG	NP_001333369.1:p.Glu1193=
NM_000124.4:c.3579_3582delinsAGAG MANE Select	NP_000115.1:p.Glu1193=
NM_001346440.2:c.3579_3582delinsAGAG	NP_001333369.1:p.Glu1193=