Canonical Allele Identifier: CA2209073328

Gene: ERCC4

Linked Data

• dbSNP Id: rs1596627140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935604_13935605insCAG , CM000678.2:g.13935604_13935605insCAG	GRCh38
NC_000016.9:g.14029461_14029462insCAG , CM000678.1:g.14029461_14029462insCAG	GRCh37
NC_000016.8:g.13936962_13936963insCAG	NCBI36
NG_011442.1:g.20448_20449insCAG , LRG_463:g.20448_20449insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1750_1751insCAG
ENST00000682617.1:c.1810_1811insCAG	ENSP00000507912.1:p.Leu604delinsProVal
ENST00000682826.1:c.*986_*987insCAG	ENSP00000507274.1:n.*986_*987insCAG
ENST00000682909.1:n.3712_3713insCAG
ENST00000683277.1:n.3317_3318insCAG
ENST00000683407.1:n.1680_1681insCAG
ENST00000683962.1:c.*1366_*1367insCAG	ENSP00000506854.1:n.*1366_*1367insCAG
ENST00000311895.8:c.1672_1673insCAG MANE Select	ENSP00000310520.7:p.Leu558delinsProVal
ENST00000311895.7:c.1672_1673insCAG	ENSP00000310520.7:p.Leu558delinsProVal
ENST00000389138.7:n.949_950insCAG
NM_005236.2:c.1672_1673insCAG , LRG_463t1:c.1672_1673insCAG	NP_005227.1:p.Leu558delinsProVal
XM_011522424.1:c.1810_1811insCAG	XP_011520726.1:p.Leu604delinsProVal
XM_011522425.1:c.1129_1130insCAG	XP_011520727.1:p.Leu377delinsProVal
XM_011522426.1:c.883_884insCAG	XP_011520728.1:p.Leu295delinsProVal
XM_011522427.1:c.322_323insCAG	XP_011520729.1:p.Leu108delinsProVal
XR_932805.1:n.1831_1832insCAG
XM_011522424.3:c.1810_1811insCAG	XP_011520726.1:p.Leu604delinsProVal
XM_017023043.2:c.883_884insCAG	XP_016878532.1:p.Leu295delinsProVal
NM_005236.3:c.1672_1673insCAG MANE Select	NP_005227.1:p.Leu558delinsProVal