Canonical Allele Identifier: CA621178896

Gene: ERCC4

Linked Data

• dbSNP Id: rs1233896880
• gnomAD v2: 16-14041688-CA-C
• gnomAD v3: 16-13947831-CA-C
• gnomAD v4: 16-13947831-CA-C
• MyVariant Identifiers: chr16:g.14041689del (hg19) ; chr16:g.13947832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947832del , CM000678.2:g.13947832del	GRCh38
NC_000016.9:g.14041689del , CM000678.1:g.14041689del	GRCh37
NC_000016.8:g.13949190del	NCBI36
NG_011442.1:g.32676del , LRG_463:g.32676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2374del	ENSP00000507912.1:p.Ile792SerfsTer13
ENST00000683962.1:c.*1930del	ENSP00000506854.1:n.*1930del
ENST00000311895.8:c.2236del MANE Select	ENSP00000310520.7:p.Ile746SerfsTer13
ENST00000311895.7:c.2236del	ENSP00000310520.7:p.Ile746SerfsTer13
ENST00000389138.7:n.1513del
ENST00000462862.1:c.549del	ENSP00000461322.1:n.549del
NM_005236.2:c.2236del , LRG_463t1:c.2236del	NP_005227.1:p.Ile746SerfsTer13
XM_011522424.1:c.2374del	XP_011520726.1:p.Ile792SerfsTer13
XM_011522425.1:c.1693del	XP_011520727.1:p.Ile565SerfsTer13
XM_011522426.1:c.1447del	XP_011520728.1:p.Ile483SerfsTer13
XM_011522427.1:c.886del	XP_011520729.1:p.Ile296SerfsTer13
XR_932805.1:n.2395del
XM_011522424.3:c.2374del	XP_011520726.1:p.Ile792SerfsTer13
XM_017023043.2:c.1447del	XP_016878532.1:p.Ile483SerfsTer13
NM_005236.3:c.2236del MANE Select	NP_005227.1:p.Ile746SerfsTer13