Canonical Allele Identifier: CA2631831154

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13944845-G-GACAAAGTGCAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944845_13944846insACAAAGTGCAGGA , CM000678.2:g.13944845_13944846insACAAAGTGCAGGA	GRCh38
NC_000016.9:g.14038702_14038703insACAAAGTGCAGGA , CM000678.1:g.14038702_14038703insACAAAGTGCAGGA	GRCh37
NC_000016.8:g.13946203_13946204insACAAAGTGCAGGA	NCBI36
NG_011442.1:g.29689_29690insACAAAGTGCAGGA , LRG_463:g.29689_29690insACAAAGTGCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+10_2155+11insACAAAGTGCAGGA	ENSP00000507912.1:n.2155+10_2155+11insACAAAGTGCAGGA
ENST00000683962.1:c.*1711+10_*1711+11insACAAAGTGCAGGA	ENSP00000506854.1:n.*1711+10_*1711+11insACAAAGTGCAGGA
ENST00000311895.8:c.2017+10_2017+11insACAAAGTGCAGGA MANE Select	ENSP00000310520.7:n.2017+10_2017+11insACAAAGTGCAGGA
ENST00000311895.7:c.2017+10_2017+11insACAAAGTGCAGGA	ENSP00000310520.7:n.2017+10_2017+11insACAAAGTGCAGGA
ENST00000389138.7:n.1294+10_1294+11insACAAAGTGCAGGA
ENST00000462862.1:c.330+10_330+11insACAAAGTGCAGGA	ENSP00000461322.1:n.330+10_330+11insACAAAGTGCAGGA
NM_005236.2:c.2017+10_2017+11insACAAAGTGCAGGA , LRG_463t1:c.2017+10_2017+11insACAAAGTGCAGGA	NP_005227.1:n.2017+10_2017+11insACAAAGTGCAGGA
XM_011522424.1:c.2155+10_2155+11insACAAAGTGCAGGA	XP_011520726.1:n.2155+10_2155+11insACAAAGTGCAGGA
XM_011522425.1:c.1474+10_1474+11insACAAAGTGCAGGA	XP_011520727.1:n.1474+10_1474+11insACAAAGTGCAGGA
XM_011522426.1:c.1228+10_1228+11insACAAAGTGCAGGA	XP_011520728.1:n.1228+10_1228+11insACAAAGTGCAGGA
XM_011522427.1:c.667+10_667+11insACAAAGTGCAGGA	XP_011520729.1:n.667+10_667+11insACAAAGTGCAGGA
XR_932805.1:n.2176+10_2176+11insACAAAGTGCAGGA
XM_011522424.3:c.2155+10_2155+11insACAAAGTGCAGGA	XP_011520726.1:n.2155+10_2155+11insACAAAGTGCAGGA
XM_017023043.2:c.1228+10_1228+11insACAAAGTGCAGGA	XP_016878532.1:n.1228+10_1228+11insACAAAGTGCAGGA
NM_005236.3:c.2017+10_2017+11insACAAAGTGCAGGA MANE Select	NP_005227.1:n.2017+10_2017+11insACAAAGTGCAGGA