Canonical Allele Identifier: CA2591713894

Gene: ERCC4

Linked Data

• gnomAD v3: 16-13944847-A-ACCGG
• gnomAD v4: 16-13944847-A-ACCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944848_13944849insCGGC , CM000678.2:g.13944848_13944849insCGGC	GRCh38
NC_000016.9:g.14038705_14038706insCGGC , CM000678.1:g.14038705_14038706insCGGC	GRCh37
NC_000016.8:g.13946206_13946207insCGGC	NCBI36
NG_011442.1:g.29692_29693insCGGC , LRG_463:g.29692_29693insCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+13_2155+14insCGGC	ENSP00000507912.1:n.2155+13_2155+14insCGGC
ENST00000683962.1:c.*1711+13_*1711+14insCGGC	ENSP00000506854.1:n.*1711+13_*1711+14insCGGC
ENST00000311895.8:c.2017+13_2017+14insCGGC MANE Select	ENSP00000310520.7:n.2017+13_2017+14insCGGC
ENST00000311895.7:c.2017+13_2017+14insCGGC	ENSP00000310520.7:n.2017+13_2017+14insCGGC
ENST00000389138.7:n.1294+13_1294+14insCGGC
ENST00000462862.1:c.330+13_330+14insCGGC	ENSP00000461322.1:n.330+13_330+14insCGGC
NM_005236.2:c.2017+13_2017+14insCGGC , LRG_463t1:c.2017+13_2017+14insCGGC	NP_005227.1:n.2017+13_2017+14insCGGC
XM_011522424.1:c.2155+13_2155+14insCGGC	XP_011520726.1:n.2155+13_2155+14insCGGC
XM_011522425.1:c.1474+13_1474+14insCGGC	XP_011520727.1:n.1474+13_1474+14insCGGC
XM_011522426.1:c.1228+13_1228+14insCGGC	XP_011520728.1:n.1228+13_1228+14insCGGC
XM_011522427.1:c.667+13_667+14insCGGC	XP_011520729.1:n.667+13_667+14insCGGC
XR_932805.1:n.2176+13_2176+14insCGGC
XM_011522424.3:c.2155+13_2155+14insCGGC	XP_011520726.1:n.2155+13_2155+14insCGGC
XM_017023043.2:c.1228+13_1228+14insCGGC	XP_016878532.1:n.1228+13_1228+14insCGGC
NM_005236.3:c.2017+13_2017+14insCGGC MANE Select	NP_005227.1:n.2017+13_2017+14insCGGC