Canonical Allele Identifier: CA2631831892

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935679-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935680_13935681del , CM000678.2:g.13935680_13935681del	GRCh38
NC_000016.9:g.14029537_14029538del , CM000678.1:g.14029537_14029538del	GRCh37
NC_000016.8:g.13937038_13937039del	NCBI36
NG_011442.1:g.20524_20525del , LRG_463:g.20524_20525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1826_1827del
ENST00000682617.1:c.1886_1887del	ENSP00000507912.1:p.Ala629GlyfsTer9
ENST00000682826.1:c.*1062_*1063del	ENSP00000507274.1:n.*1062_*1063del
ENST00000682909.1:n.3788_3789del
ENST00000683277.1:n.3393_3394del
ENST00000683407.1:n.1756_1757del
ENST00000683962.1:c.*1442_*1443del	ENSP00000506854.1:n.*1442_*1443del
ENST00000311895.8:c.1748_1749del MANE Select	ENSP00000310520.7:p.Ala583GlyfsTer9
ENST00000311895.7:c.1748_1749del	ENSP00000310520.7:p.Ala583GlyfsTer9
ENST00000389138.7:n.1025_1026del
NM_005236.2:c.1748_1749del , LRG_463t1:c.1748_1749del	NP_005227.1:p.Ala583GlyfsTer9
XM_011522424.1:c.1886_1887del	XP_011520726.1:p.Ala629GlyfsTer9
XM_011522425.1:c.1205_1206del	XP_011520727.1:p.Ala402GlyfsTer9
XM_011522426.1:c.959_960del	XP_011520728.1:p.Ala320GlyfsTer9
XM_011522427.1:c.398_399del	XP_011520729.1:p.Ala133GlyfsTer9
XR_932805.1:n.1907_1908del
XM_011522424.3:c.1886_1887del	XP_011520726.1:p.Ala629GlyfsTer9
XM_017023043.2:c.959_960del	XP_016878532.1:p.Ala320GlyfsTer9
NM_005236.3:c.1748_1749del MANE Select	NP_005227.1:p.Ala583GlyfsTer9