Canonical Allele Identifier: CA2631831387

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947962-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947967_13947969del , CM000678.2:g.13947967_13947969del	GRCh38
NC_000016.9:g.14041824_14041826del , CM000678.1:g.14041824_14041826del	GRCh37
NC_000016.8:g.13949325_13949327del	NCBI36
NG_011442.1:g.32811_32813del , LRG_463:g.32811_32813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2509_2511del	ENSP00000507912.1:p.Leu837del
ENST00000683962.1:c.*2065_*2067del	ENSP00000506854.1:n.*2065_*2067del
ENST00000311895.8:c.2371_2373del MANE Select	ENSP00000310520.7:p.Leu791del
ENST00000311895.7:c.2371_2373del	ENSP00000310520.7:p.Leu791del
ENST00000389138.7:n.1648_1650del
ENST00000462862.1:c.684_686del	ENSP00000461322.1:n.684_686del
NM_005236.2:c.2371_2373del , LRG_463t1:c.2371_2373del	NP_005227.1:p.Leu791del
XM_011522424.1:c.2509_2511del	XP_011520726.1:p.Leu837del
XM_011522425.1:c.1828_1830del	XP_011520727.1:p.Leu610del
XM_011522426.1:c.1582_1584del	XP_011520728.1:p.Leu528del
XM_011522427.1:c.1021_1023del	XP_011520729.1:p.Leu341del
XR_932805.1:n.2530_2532del
XM_011522424.3:c.2509_2511del	XP_011520726.1:p.Leu837del
XM_017023043.2:c.1582_1584del	XP_016878532.1:p.Leu528del
NM_005236.3:c.2371_2373del MANE Select	NP_005227.1:p.Leu791del