Canonical Allele Identifier: CA2631831373

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947823-AGCCAGTGCATCTCCATGTCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947826_13947846del , CM000678.2:g.13947826_13947846del	GRCh38
NC_000016.9:g.14041683_14041703del , CM000678.1:g.14041683_14041703del	GRCh37
NC_000016.8:g.13949184_13949204del	NCBI36
NG_011442.1:g.32670_32690del , LRG_463:g.32670_32690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2368_2388del	ENSP00000507912.1:p.Gln790_Arg796del
ENST00000683962.1:c.*1924_*1944del	ENSP00000506854.1:n.*1924_*1944del
ENST00000311895.8:c.2230_2250del MANE Select	ENSP00000310520.7:p.Gln744_Arg750del
ENST00000311895.7:c.2230_2250del	ENSP00000310520.7:p.Gln744_Arg750del
ENST00000389138.7:n.1507_1527del
ENST00000462862.1:c.543_563del	ENSP00000461322.1:n.543_563del
NM_005236.2:c.2230_2250del , LRG_463t1:c.2230_2250del	NP_005227.1:p.Gln744_Arg750del
XM_011522424.1:c.2368_2388del	XP_011520726.1:p.Gln790_Arg796del
XM_011522425.1:c.1687_1707del	XP_011520727.1:p.Gln563_Arg569del
XM_011522426.1:c.1441_1461del	XP_011520728.1:p.Gln481_Arg487del
XM_011522427.1:c.880_900del	XP_011520729.1:p.Gln294_Arg300del
XR_932805.1:n.2389_2409del
XM_011522424.3:c.2368_2388del	XP_011520726.1:p.Gln790_Arg796del
XM_017023043.2:c.1441_1461del	XP_016878532.1:p.Gln481_Arg487del
NM_005236.3:c.2230_2250del MANE Select	NP_005227.1:p.Gln744_Arg750del