Canonical Allele Identifier: CA2575915879

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935582-CCTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935585_13935588del , CM000678.2:g.13935585_13935588del	GRCh38
NC_000016.9:g.14029442_14029445del , CM000678.1:g.14029442_14029445del	GRCh37
NC_000016.8:g.13936943_13936946del	NCBI36
NG_011442.1:g.20429_20432del , LRG_463:g.20429_20432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1731_1734del
ENST00000682617.1:c.1791_1794del	ENSP00000507912.1:p.Thr598SerfsTer14
ENST00000682826.1:c.*967_*970del	ENSP00000507274.1:n.*967_*970del
ENST00000682909.1:n.3693_3696del
ENST00000683277.1:n.3298_3301del
ENST00000683407.1:n.1661_1664del
ENST00000683962.1:c.*1347_*1350del	ENSP00000506854.1:n.*1347_*1350del
ENST00000311895.8:c.1653_1656del MANE Select	ENSP00000310520.7:p.Thr552SerfsTer14
ENST00000311895.7:c.1653_1656del	ENSP00000310520.7:p.Thr552SerfsTer14
ENST00000389138.7:n.930_933del
NM_005236.2:c.1653_1656del , LRG_463t1:c.1653_1656del	NP_005227.1:p.Thr552SerfsTer14
XM_011522424.1:c.1791_1794del	XP_011520726.1:p.Thr598SerfsTer14
XM_011522425.1:c.1110_1113del	XP_011520727.1:p.Thr371SerfsTer14
XM_011522426.1:c.864_867del	XP_011520728.1:p.Thr289SerfsTer14
XM_011522427.1:c.303_306del	XP_011520729.1:p.Thr102SerfsTer14
XR_932805.1:n.1812_1815del
XM_011522424.3:c.1791_1794del	XP_011520726.1:p.Thr598SerfsTer14
XM_017023043.2:c.864_867del	XP_016878532.1:p.Thr289SerfsTer14
NM_005236.3:c.1653_1656del MANE Select	NP_005227.1:p.Thr552SerfsTer14