Canonical Allele Identifier: CA891863034

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 592043
• ClinVar RCV Id: RCV000723229
• dbSNP Id: rs1567254204

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948149_13948151del , CM000678.2:g.13948149_13948151del	GRCh38
NC_000016.9:g.14042006_14042008del , CM000678.1:g.14042006_14042008del	GRCh37
NC_000016.8:g.13949507_13949509del	NCBI36
NG_011442.1:g.32993_32995del , LRG_463:g.32993_32995del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2691_2693del	ENSP00000507912.1:p.Phe897del
ENST00000683962.1:c.*2247_*2249del	ENSP00000506854.1:n.*2247_*2249del
ENST00000311895.8:c.2553_2555del MANE Select	ENSP00000310520.7:p.Phe851del
ENST00000311895.7:c.2553_2555del	ENSP00000310520.7:p.Phe851del
ENST00000389138.7:n.1830_1832del
NM_005236.2:c.2553_2555del , LRG_463t1:c.2553_2555del	NP_005227.1:p.Phe851del
XM_011522424.1:c.2691_2693del	XP_011520726.1:p.Phe897del
XM_011522425.1:c.2010_2012del	XP_011520727.1:p.Phe670del
XM_011522426.1:c.1764_1766del	XP_011520728.1:p.Phe588del
XM_011522427.1:c.1203_1205del	XP_011520729.1:p.Phe401del
XR_932805.1:n.2712_2714del
XM_011522424.3:c.2691_2693del	XP_011520726.1:p.Phe897del
XM_017023043.2:c.1764_1766del	XP_016878532.1:p.Phe588del
NM_005236.3:c.2553_2555del MANE Select	NP_005227.1:p.Phe851del