Canonical Allele Identifier: CA645548749

Gene: ERCC6

Linked Data

• COSMIC: COSM13869

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470604_49470605delinsAG , CM000672.2:g.49470604_49470605delinsAG	GRCh38
NC_000010.10:g.50678650_50678651delinsAG , CM000672.1:g.50678650_50678651delinsAG	GRCh37
NC_000010.9:g.50348656_50348657delinsAG	NCBI36
NG_009442.1:g.73497_73498delinsCT , LRG_465:g.73497_73498delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3355_3356delinsCT MANE Select	ENSP00000348089.5:p.Glu1119Leu
ENST00000679552.1:n.426_427delinsCT
ENST00000679871.1:n.501_502delinsCT
ENST00000679974.1:n.404_405delinsCT
ENST00000681632.1:n.4758_4759delinsCT
ENST00000681659.1:c.3196_3197delinsCT	ENSP00000505631.1:p.Glu1066Leu
ENST00000355832.9:c.3355_3356delinsCT	ENSP00000348089.5:p.Glu1119Leu
ENST00000623073.3:c.*1651_*1652delinsCT	ENSP00000485650.1:n.*1651_*1652delinsCT
ENST00000623115.3:c.1465_1466delinsCT	ENSP00000485321.1:p.Glu489Leu
ENST00000624341.3:c.1187_1188delinsCT
NM_000124.3:c.3355_3356delinsCT	NP_000115.1:p.Glu1119Leu
XR_945953.1:n.243-961_243-960delinsAG
NM_001346440.1:c.3355_3356delinsCT	NP_001333369.1:p.Glu1119Leu
NM_000124.4:c.3355_3356delinsCT MANE Select	NP_000115.1:p.Glu1119Leu
NM_001346440.2:c.3355_3356delinsCT	NP_001333369.1:p.Glu1119Leu