Canonical Allele Identifier: CA351495

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 16579
• ClinVar RCV Id: RCV000018047
• dbSNP Id: rs869025184
• MyVariant Identifiers: chr16:g.14041757_14041760del (hg19) ; chr16:g.13947900_13947903del (hg38)
• PubMed: PMID:3372781 ; PMID:8797827

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947900_13947903del , CM000678.2:g.13947900_13947903del	GRCh38
NC_000016.9:g.14041757_14041760del , CM000678.1:g.14041757_14041760del	GRCh37
NC_000016.8:g.13949258_13949261del	NCBI36
NG_011442.1:g.32744_32747del , LRG_463:g.32744_32747del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2442_2445del	ENSP00000507912.1:p.Thr816ProfsTer?
ENST00000683962.1:c.*1998_*2001del	ENSP00000506854.1:n.*1998_*2001del
ENST00000311895.8:c.2304_2307del MANE Select	ENSP00000310520.7:p.Thr770ProfsTer?
ENST00000311895.7:c.2304_2307del	ENSP00000310520.7:p.Thr770ProfsTer?
ENST00000389138.7:n.1581_1584del
ENST00000462862.1:c.617_620del	ENSP00000461322.1:n.617_620del
NM_005236.2:c.2304_2307del , LRG_463t1:c.2304_2307del	NP_005227.1:p.Thr770ProfsTer?
XM_011522424.1:c.2442_2445del	XP_011520726.1:p.Thr816ProfsTer?
XM_011522425.1:c.1761_1764del	XP_011520727.1:p.Thr589ProfsTer?
XM_011522426.1:c.1515_1518del	XP_011520728.1:p.Thr507ProfsTer?
XM_011522427.1:c.954_957del	XP_011520729.1:p.Thr320ProfsTer?
XR_932805.1:n.2463_2466del
XM_011522424.3:c.2442_2445del	XP_011520726.1:p.Thr816ProfsTer?
XM_017023043.2:c.1515_1518del	XP_016878532.1:p.Thr507ProfsTer?
NM_005236.3:c.2304_2307del MANE Select	NP_005227.1:p.Thr770ProfsTer?