Canonical Allele Identifier: CA143935

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 55825
• ClinVar RCV Id: RCV000049246 ; RCV001310216
• dbSNP Id: rs397509401
• MyVariant Identifiers: chr16:g.14041824_14041851dup28 (hg19) ; chr16:g.13947967_13947994dup28 (hg38)
• PubMed: PMID:23623386

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947967_13947994dup , CM000678.2:g.13947967_13947994dup	GRCh38
NC_000016.9:g.14041824_14041851dup , CM000678.1:g.14041824_14041851dup	GRCh37
NC_000016.8:g.13949325_13949352dup	NCBI36
NG_011442.1:g.32811_32838dup , LRG_463:g.32811_32838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2509_2536dup	ENSP00000507912.1:p.Ile846ThrfsTer24
ENST00000683962.1:c.*2065_*2092dup	ENSP00000506854.1:n.*2065_*2092dup
ENST00000311895.8:c.2371_2398dup MANE Select	ENSP00000310520.7:p.Ile800ThrfsTer24
ENST00000311895.7:c.2371_2398dup	ENSP00000310520.7:p.Ile800ThrfsTer24
ENST00000389138.7:n.1648_1675dup
ENST00000462862.1:c.684_711dup	ENSP00000461322.1:n.684_711dup
NM_005236.2:c.2371_2398dup , LRG_463t1:c.2371_2398dup	NP_005227.1:p.Ile800ThrfsTer24
XM_011522424.1:c.2509_2536dup	XP_011520726.1:p.Ile846ThrfsTer24
XM_011522425.1:c.1828_1855dup	XP_011520727.1:p.Ile619ThrfsTer24
XM_011522426.1:c.1582_1609dup	XP_011520728.1:p.Ile537ThrfsTer24
XM_011522427.1:c.1021_1048dup	XP_011520729.1:p.Ile350ThrfsTer24
XR_932805.1:n.2530_2557dup
XM_011522424.3:c.2509_2536dup	XP_011520726.1:p.Ile846ThrfsTer24
XM_017023043.2:c.1582_1609dup	XP_016878532.1:p.Ile537ThrfsTer24
NM_005236.3:c.2371_2398dup MANE Select	NP_005227.1:p.Ile800ThrfsTer24