Canonical Allele Identifier: CA2631831346

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947615-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947617del , CM000678.2:g.13947617del	GRCh38
NC_000016.9:g.14041474del , CM000678.1:g.14041474del	GRCh37
NC_000016.8:g.13948975del	NCBI36
NG_011442.1:g.32461del , LRG_463:g.32461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2159del	ENSP00000507912.1:p.Gly720AlafsTer11
ENST00000683962.1:c.*1715del	ENSP00000506854.1:n.*1715del
ENST00000311895.8:c.2021del MANE Select	ENSP00000310520.7:p.Gly674AlafsTer11
ENST00000311895.7:c.2021del	ENSP00000310520.7:p.Gly674AlafsTer11
ENST00000389138.7:n.1298del
ENST00000462862.1:c.334del	ENSP00000461322.1:n.334del
NM_005236.2:c.2021del , LRG_463t1:c.2021del	NP_005227.1:p.Gly674AlafsTer11
XM_011522424.1:c.2159del	XP_011520726.1:p.Gly720AlafsTer11
XM_011522425.1:c.1478del	XP_011520727.1:p.Gly493AlafsTer11
XM_011522426.1:c.1232del	XP_011520728.1:p.Gly411AlafsTer11
XM_011522427.1:c.671del	XP_011520729.1:p.Gly224AlafsTer11
XR_932805.1:n.2180del
XM_011522424.3:c.2159del	XP_011520726.1:p.Gly720AlafsTer11
XM_017023043.2:c.1232del	XP_016878532.1:p.Gly411AlafsTer11
NM_005236.3:c.2021del MANE Select	NP_005227.1:p.Gly674AlafsTer11