Canonical Allele Identifier: CA2209073437

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935662_13935663delinsAC , CM000678.2:g.13935662_13935663delinsAC	GRCh38
NC_000016.9:g.14029519_14029520delinsAC , CM000678.1:g.14029519_14029520delinsAC	GRCh37
NC_000016.8:g.13937020_13937021delinsAC	NCBI36
NG_011442.1:g.20506_20507delinsAC , LRG_463:g.20506_20507delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1808_1809delinsAC
ENST00000682617.1:c.1868_1869delinsAC	ENSP00000507912.1:p.Tyr623=
ENST00000682826.1:c.*1044_*1045delinsAC	ENSP00000507274.1:n.*1044_*1045delinsAC
ENST00000682909.1:n.3770_3771delinsAC
ENST00000683277.1:n.3375_3376delinsAC
ENST00000683407.1:n.1738_1739delinsAC
ENST00000683962.1:c.*1424_*1425delinsAC	ENSP00000506854.1:n.*1424_*1425delinsAC
ENST00000311895.8:c.1730_1731delinsAC MANE Select	ENSP00000310520.7:p.Tyr577=
ENST00000311895.7:c.1730_1731delinsAC	ENSP00000310520.7:p.Tyr577=
ENST00000389138.7:n.1007_1008delinsAC
NM_005236.2:c.1730_1731delinsAC , LRG_463t1:c.1730_1731delinsAC	NP_005227.1:p.Tyr577=
XM_011522424.1:c.1868_1869delinsAC	XP_011520726.1:p.Tyr623=
XM_011522425.1:c.1187_1188delinsAC	XP_011520727.1:p.Tyr396=
XM_011522426.1:c.941_942delinsAC	XP_011520728.1:p.Tyr314=
XM_011522427.1:c.380_381delinsAC	XP_011520729.1:p.Tyr127=
XR_932805.1:n.1889_1890delinsAC
XM_011522424.3:c.1868_1869delinsAC	XP_011520726.1:p.Tyr623=
XM_017023043.2:c.941_942delinsAC	XP_016878532.1:p.Tyr314=
NM_005236.3:c.1730_1731delinsAC MANE Select	NP_005227.1:p.Tyr577=