Canonical Allele Identifier: CA2631831645

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935582-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935584_13935585del , CM000678.2:g.13935584_13935585del	GRCh38
NC_000016.9:g.14029441_14029442del , CM000678.1:g.14029441_14029442del	GRCh37
NC_000016.8:g.13936942_13936943del	NCBI36
NG_011442.1:g.20428_20429del , LRG_463:g.20428_20429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1730_1731del
ENST00000682617.1:c.1790_1791del	ENSP00000507912.1:p.Leu597HisfsTer21
ENST00000682826.1:c.*966_*967del	ENSP00000507274.1:n.*966_*967del
ENST00000682909.1:n.3692_3693del
ENST00000683277.1:n.3297_3298del
ENST00000683407.1:n.1660_1661del
ENST00000683962.1:c.*1346_*1347del	ENSP00000506854.1:n.*1346_*1347del
ENST00000311895.8:c.1652_1653del MANE Select	ENSP00000310520.7:p.Leu551HisfsTer21
ENST00000311895.7:c.1652_1653del	ENSP00000310520.7:p.Leu551HisfsTer21
ENST00000389138.7:n.929_930del
NM_005236.2:c.1652_1653del , LRG_463t1:c.1652_1653del	NP_005227.1:p.Leu551HisfsTer21
XM_011522424.1:c.1790_1791del	XP_011520726.1:p.Leu597HisfsTer21
XM_011522425.1:c.1109_1110del	XP_011520727.1:p.Leu370HisfsTer21
XM_011522426.1:c.863_864del	XP_011520728.1:p.Leu288HisfsTer21
XM_011522427.1:c.302_303del	XP_011520729.1:p.Leu101HisfsTer21
XR_932805.1:n.1811_1812del
XM_011522424.3:c.1790_1791del	XP_011520726.1:p.Leu597HisfsTer21
XM_017023043.2:c.863_864del	XP_016878532.1:p.Leu288HisfsTer21
NM_005236.3:c.1652_1653del MANE Select	NP_005227.1:p.Leu551HisfsTer21