Canonical Allele Identifier: CA2631831336

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947564-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947568_13947570del , CM000678.2:g.13947568_13947570del	GRCh38
NC_000016.9:g.14041425_14041427del , CM000678.1:g.14041425_14041427del	GRCh37
NC_000016.8:g.13948926_13948928del	NCBI36
NG_011442.1:g.32412_32414del , LRG_463:g.32412_32414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2156-46_2156-44del	ENSP00000507912.1:n.2156-46_2156-44del
ENST00000683962.1:c.*1712-46_*1712-44del	ENSP00000506854.1:n.*1712-46_*1712-44del
ENST00000311895.8:c.2018-46_2018-44del MANE Select	ENSP00000310520.7:n.2018-46_2018-44del
ENST00000311895.7:c.2018-46_2018-44del	ENSP00000310520.7:n.2018-46_2018-44del
ENST00000389138.7:n.1295-46_1295-44del
ENST00000462862.1:c.331-46_331-44del	ENSP00000461322.1:n.331-46_331-44del
NM_005236.2:c.2018-46_2018-44del , LRG_463t1:c.2018-46_2018-44del	NP_005227.1:n.2018-46_2018-44del
XM_011522424.1:c.2156-46_2156-44del	XP_011520726.1:n.2156-46_2156-44del
XM_011522425.1:c.1475-46_1475-44del	XP_011520727.1:n.1475-46_1475-44del
XM_011522426.1:c.1229-46_1229-44del	XP_011520728.1:n.1229-46_1229-44del
XM_011522427.1:c.668-46_668-44del	XP_011520729.1:n.668-46_668-44del
XR_932805.1:n.2177-46_2177-44del
XM_011522424.3:c.2156-46_2156-44del	XP_011520726.1:n.2156-46_2156-44del
XM_017023043.2:c.1229-46_1229-44del	XP_016878532.1:n.1229-46_1229-44del
NM_005236.3:c.2018-46_2018-44del MANE Select	NP_005227.1:n.2018-46_2018-44del