Canonical Allele Identifier: CA658798545

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 541251
• ClinVar RCV Id: RCV000651478
• dbSNP Id: rs1555468482
• gnomAD v4: 16-13935662-AC-A
• MyVariant Identifiers: chr16:g.14029520del (hg19) ; chr16:g.13935663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935663del , CM000678.2:g.13935663del	GRCh38
NC_000016.9:g.14029520del , CM000678.1:g.14029520del	GRCh37
NC_000016.8:g.13937021del	NCBI36
NG_011442.1:g.20507del , LRG_463:g.20507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1809del
ENST00000682617.1:c.1869del	ENSP00000507912.1:p.Tyr623Ter
ENST00000682826.1:c.*1045del	ENSP00000507274.1:n.*1045del
ENST00000682909.1:n.3771del
ENST00000683277.1:n.3376del
ENST00000683407.1:n.1739del
ENST00000683962.1:c.*1425del	ENSP00000506854.1:n.*1425del
ENST00000311895.8:c.1731del MANE Select	ENSP00000310520.7:p.Tyr577Ter
ENST00000311895.7:c.1731del	ENSP00000310520.7:p.Tyr577Ter
ENST00000389138.7:n.1008del
NM_005236.2:c.1731del , LRG_463t1:c.1731del	NP_005227.1:p.Tyr577Ter
XM_011522424.1:c.1869del	XP_011520726.1:p.Tyr623Ter
XM_011522425.1:c.1188del	XP_011520727.1:p.Tyr396Ter
XM_011522426.1:c.942del	XP_011520728.1:p.Tyr314Ter
XM_011522427.1:c.381del	XP_011520729.1:p.Tyr127Ter
XR_932805.1:n.1890del
XM_011522424.3:c.1869del	XP_011520726.1:p.Tyr623Ter
XM_017023043.2:c.942del	XP_016878532.1:p.Tyr314Ter
NM_005236.3:c.1731del MANE Select	NP_005227.1:p.Tyr577Ter