Canonical Allele Identifier: CA2209081293

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944469_13944473delinsTAAAC , CM000678.2:g.13944469_13944473delinsTAAAC	GRCh38
NC_000016.9:g.14038326_14038330delinsTAAAC , CM000678.1:g.14038326_14038330delinsTAAAC	GRCh37
NC_000016.8:g.13945827_13945831delinsTAAAC	NCBI36
NG_011442.1:g.29313_29317delinsTAAAC , LRG_463:g.29313_29317delinsTAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-254_2043-250delinsTAAAC	ENSP00000507912.1:n.2043-254_2043-250delinsTAAAC
ENST00000683962.1:c.*1599-254_*1599-250delinsTAAAC	ENSP00000506854.1:n.*1599-254_*1599-250delinsTAAAC
ENST00000311895.8:c.1905-254_1905-250delinsTAAAC MANE Select	ENSP00000310520.7:n.1905-254_1905-250delinsTAAAC
ENST00000311895.7:c.1905-254_1905-250delinsTAAAC	ENSP00000310520.7:n.1905-254_1905-250delinsTAAAC
ENST00000389138.7:n.1182-254_1182-250delinsTAAAC
ENST00000462862.1:c.218-254_218-250delinsTAAAC	ENSP00000461322.1:n.218-254_218-250delinsTAAAC
NM_005236.2:c.1905-254_1905-250delinsTAAAC , LRG_463t1:c.1905-254_1905-250delinsTAAAC	NP_005227.1:n.1905-254_1905-250delinsTAAAC
XM_011522424.1:c.2043-254_2043-250delinsTAAAC	XP_011520726.1:n.2043-254_2043-250delinsTAAAC
XM_011522425.1:c.1362-254_1362-250delinsTAAAC	XP_011520727.1:n.1362-254_1362-250delinsTAAAC
XM_011522426.1:c.1116-254_1116-250delinsTAAAC	XP_011520728.1:n.1116-254_1116-250delinsTAAAC
XM_011522427.1:c.555-254_555-250delinsTAAAC	XP_011520729.1:n.555-254_555-250delinsTAAAC
XR_932805.1:n.2064-254_2064-250delinsTAAAC
XM_011522424.3:c.2043-254_2043-250delinsTAAAC	XP_011520726.1:n.2043-254_2043-250delinsTAAAC
XM_017023043.2:c.1116-254_1116-250delinsTAAAC	XP_016878532.1:n.1116-254_1116-250delinsTAAAC
NM_005236.3:c.1905-254_1905-250delinsTAAAC MANE Select	NP_005227.1:n.1905-254_1905-250delinsTAAAC