Canonical Allele Identifier: CA919662800
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1596627140

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935604_13935605insCAGTTCTTCAGGTTT , CM000678.2:g.13935604_13935605insCAGTTCTTCAGGTTT GRCh38
NC_000016.9:g.14029461_14029462insCAGTTCTTCAGGTTT , CM000678.1:g.14029461_14029462insCAGTTCTTCAGGTTT GRCh37
NC_000016.8:g.13936962_13936963insCAGTTCTTCAGGTTT NCBI36
NG_011442.1:g.20448_20449insCAGTTCTTCAGGTTT , LRG_463:g.20448_20449insCAGTTCTTCAGGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1750_1751insCAGTTCTTCAGGTTT
ENST00000682617.1:c.1810_1811insCAGTTCTTCAGGTTT ENSP00000507912.1:p.Leu603_Leu604insProValLeuGlnVal
ENST00000682826.1:c.*986_*987insCAGTTCTTCAGGTTT ENSP00000507274.1:n.*986_*987insCAGTTCTTCAGGTTT
ENST00000682909.1:n.3712_3713insCAGTTCTTCAGGTTT
ENST00000683277.1:n.3317_3318insCAGTTCTTCAGGTTT
ENST00000683407.1:n.1680_1681insCAGTTCTTCAGGTTT
ENST00000683962.1:c.*1366_*1367insCAGTTCTTCAGGTTT ENSP00000506854.1:n.*1366_*1367insCAGTTCTTCAGGTTT
ENST00000311895.8:c.1672_1673insCAGTTCTTCAGGTTT MANE Select ENSP00000310520.7:p.Leu557_Leu558insProValLeuGlnVal
ENST00000311895.7:c.1672_1673insCAGTTCTTCAGGTTT ENSP00000310520.7:p.Leu557_Leu558insProValLeuGlnVal
ENST00000389138.7:n.949_950insCAGTTCTTCAGGTTT
NM_005236.2:c.1672_1673insCAGTTCTTCAGGTTT , LRG_463t1:c.1672_1673insCAGTTCTTCAGGTTT NP_005227.1:p.Leu557_Leu558insProValLeuGlnVal
XM_011522424.1:c.1810_1811insCAGTTCTTCAGGTTT XP_011520726.1:p.Leu603_Leu604insProValLeuGlnVal
XM_011522425.1:c.1129_1130insCAGTTCTTCAGGTTT XP_011520727.1:p.Leu376_Leu377insProValLeuGlnVal
XM_011522426.1:c.883_884insCAGTTCTTCAGGTTT XP_011520728.1:p.Leu294_Leu295insProValLeuGlnVal
XM_011522427.1:c.322_323insCAGTTCTTCAGGTTT XP_011520729.1:p.Leu107_Leu108insProValLeuGlnVal
XR_932805.1:n.1831_1832insCAGTTCTTCAGGTTT
XM_011522424.3:c.1810_1811insCAGTTCTTCAGGTTT XP_011520726.1:p.Leu603_Leu604insProValLeuGlnVal
XM_017023043.2:c.883_884insCAGTTCTTCAGGTTT XP_016878532.1:p.Leu294_Leu295insProValLeuGlnVal
NM_005236.3:c.1672_1673insCAGTTCTTCAGGTTT MANE Select NP_005227.1:p.Leu557_Leu558insProValLeuGlnVal