Canonical Allele Identifier: CA2591714422

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621795
• gnomAD v3: 16-13948482-AAGCC-A
• gnomAD v4: 16-13948482-AAGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948485_13948488del , CM000678.2:g.13948485_13948488del	GRCh38
NC_000016.9:g.14042342_14042345del , CM000678.1:g.14042342_14042345del	GRCh37
NC_000016.8:g.13949843_13949846del	NCBI36
NG_011442.1:g.33329_33332del , LRG_463:g.33329_33332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*138_*141del	ENSP00000507912.1:n.*138_*141del
ENST00000683962.1:c.*2583_*2586del	ENSP00000506854.1:n.*2583_*2586del
ENST00000311895.8:c.*138_*141del MANE Select	ENSP00000310520.7:n.*138_*141del
ENST00000311895.7:c.*138_*141del	ENSP00000310520.7:n.*138_*141del
NM_005236.2:c.*138_*141del , LRG_463t1:c.*138_*141del	NP_005227.1:n.*138_*141del
XM_011522424.1:c.*138_*141del	XP_011520726.1:n.*138_*141del
XM_011522425.1:c.*138_*141del	XP_011520727.1:n.*138_*141del
XM_011522426.1:c.*138_*141del	XP_011520728.1:n.*138_*141del
XM_011522427.1:c.*138_*141del	XP_011520729.1:n.*138_*141del
XR_932805.1:n.3048_3051del
XM_011522424.3:c.*138_*141del	XP_011520726.1:n.*138_*141del
XM_017023043.2:c.*138_*141del	XP_016878532.1:n.*138_*141del
NM_005236.3:c.*138_*141del MANE Select	NP_005227.1:n.*138_*141del