Canonical Allele Identifier: CA2209081468

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2019146
• ClinVar RCV Id: RCV002846882
• dbSNP Id: rs2032486702

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944854del , CM000678.2:g.13944854del	GRCh38
NC_000016.9:g.14038711del , CM000678.1:g.14038711del	GRCh37
NC_000016.8:g.13946212del	NCBI36
NG_011442.1:g.29698del , LRG_463:g.29698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+19del	ENSP00000507912.1:n.2155+19del
ENST00000683962.1:c.*1711+19del	ENSP00000506854.1:n.*1711+19del
ENST00000311895.8:c.2017+19del MANE Select	ENSP00000310520.7:n.2017+19del
ENST00000311895.7:c.2017+19del	ENSP00000310520.7:n.2017+19del
ENST00000389138.7:n.1294+19del
ENST00000462862.1:c.330+19del	ENSP00000461322.1:n.330+19del
NM_005236.2:c.2017+19del , LRG_463t1:c.2017+19del	NP_005227.1:n.2017+19del
XM_011522424.1:c.2155+19del	XP_011520726.1:n.2155+19del
XM_011522425.1:c.1474+19del	XP_011520727.1:n.1474+19del
XM_011522426.1:c.1228+19del	XP_011520728.1:n.1228+19del
XM_011522427.1:c.667+19del	XP_011520729.1:n.667+19del
XR_932805.1:n.2176+19del
XM_011522424.3:c.2155+19del	XP_011520726.1:n.2155+19del
XM_017023043.2:c.1228+19del	XP_016878532.1:n.1228+19del
NM_005236.3:c.2017+19del MANE Select	NP_005227.1:n.2017+19del