Canonical Allele Identifier: CA974915024

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032554113
• gnomAD v3: 16-13947997-C-CTCT
• gnomAD v4: 16-13947997-C-CTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947998_13948000dup , CM000678.2:g.13947998_13948000dup	GRCh38
NC_000016.9:g.14041855_14041857dup , CM000678.1:g.14041855_14041857dup	GRCh37
NC_000016.8:g.13949356_13949358dup	NCBI36
NG_011442.1:g.32842_32844dup , LRG_463:g.32842_32844dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2540_2542dup	ENSP00000507912.1:p.Leu847_Trp848insPhe
ENST00000683962.1:c.*2096_*2098dup	ENSP00000506854.1:n.*2096_*2098dup
ENST00000311895.8:c.2402_2404dup MANE Select	ENSP00000310520.7:p.Leu801_Trp802insPhe
ENST00000311895.7:c.2402_2404dup	ENSP00000310520.7:p.Leu801_Trp802insPhe
ENST00000389138.7:n.1679_1681dup
ENST00000462862.1:c.715_717dup	ENSP00000461322.1:n.715_717dup
NM_005236.2:c.2402_2404dup , LRG_463t1:c.2402_2404dup	NP_005227.1:p.Leu801_Trp802insPhe
XM_011522424.1:c.2540_2542dup	XP_011520726.1:p.Leu847_Trp848insPhe
XM_011522425.1:c.1859_1861dup	XP_011520727.1:p.Leu620_Trp621insPhe
XM_011522426.1:c.1613_1615dup	XP_011520728.1:p.Leu538_Trp539insPhe
XM_011522427.1:c.1052_1054dup	XP_011520729.1:p.Leu351_Trp352insPhe
XR_932805.1:n.2561_2563dup
XM_011522424.3:c.2540_2542dup	XP_011520726.1:p.Leu847_Trp848insPhe
XM_017023043.2:c.1613_1615dup	XP_016878532.1:p.Leu538_Trp539insPhe
NM_005236.3:c.2402_2404dup MANE Select	NP_005227.1:p.Leu801_Trp802insPhe