Canonical Allele Identifier: CA2631831407

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948189-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948191del , CM000678.2:g.13948191del	GRCh38
NC_000016.9:g.14042048del , CM000678.1:g.14042048del	GRCh37
NC_000016.8:g.13949549del	NCBI36
NG_011442.1:g.33035del , LRG_463:g.33035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2733del	ENSP00000507912.1:p.Leu912Ter
ENST00000683962.1:c.*2289del	ENSP00000506854.1:n.*2289del
ENST00000311895.8:c.2595del MANE Select	ENSP00000310520.7:p.Leu866Ter
ENST00000311895.7:c.2595del	ENSP00000310520.7:p.Leu866Ter
ENST00000389138.7:n.1872del
NM_005236.2:c.2595del , LRG_463t1:c.2595del	NP_005227.1:p.Leu866Ter
XM_011522424.1:c.2733del	XP_011520726.1:p.Leu912Ter
XM_011522425.1:c.2052del	XP_011520727.1:p.Leu685Ter
XM_011522426.1:c.1806del	XP_011520728.1:p.Leu603Ter
XM_011522427.1:c.1245del	XP_011520729.1:p.Leu416Ter
XR_932805.1:n.2754del
XM_011522424.3:c.2733del	XP_011520726.1:p.Leu912Ter
XM_017023043.2:c.1806del	XP_016878532.1:p.Leu603Ter
NM_005236.3:c.2595del MANE Select	NP_005227.1:p.Leu866Ter