Canonical Allele Identifier: CA2209081541

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13945017_13945023delinsCCCCAGA , CM000678.2:g.13945017_13945023delinsCCCCAGA	GRCh38
NC_000016.9:g.14038874_14038880delinsCCCCAGA , CM000678.1:g.14038874_14038880delinsCCCCAGA	GRCh37
NC_000016.8:g.13946375_13946381delinsCCCCAGA	NCBI36
NG_011442.1:g.29861_29867delinsCCCCAGA , LRG_463:g.29861_29867delinsCCCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2155+182_2155+188delinsCCCCAGA	ENSP00000507912.1:n.2155+182_2155+188delinsCCCCAGA
ENST00000683962.1:c.*1711+182_*1711+188delinsCCCCAGA	ENSP00000506854.1:n.*1711+182_*1711+188delinsCCCCAGA
ENST00000311895.8:c.2017+182_2017+188delinsCCCCAGA MANE Select	ENSP00000310520.7:n.2017+182_2017+188delinsCCCCAGA
ENST00000311895.7:c.2017+182_2017+188delinsCCCCAGA	ENSP00000310520.7:n.2017+182_2017+188delinsCCCCAGA
ENST00000389138.7:n.1294+182_1294+188delinsCCCCAGA
ENST00000462862.1:c.330+182_330+188delinsCCCCAGA	ENSP00000461322.1:n.330+182_330+188delinsCCCCAGA
NM_005236.2:c.2017+182_2017+188delinsCCCCAGA , LRG_463t1:c.2017+182_2017+188delinsCCCCAGA	NP_005227.1:n.2017+182_2017+188delinsCCCCAGA
XM_011522424.1:c.2155+182_2155+188delinsCCCCAGA	XP_011520726.1:n.2155+182_2155+188delinsCCCCAGA
XM_011522425.1:c.1474+182_1474+188delinsCCCCAGA	XP_011520727.1:n.1474+182_1474+188delinsCCCCAGA
XM_011522426.1:c.1228+182_1228+188delinsCCCCAGA	XP_011520728.1:n.1228+182_1228+188delinsCCCCAGA
XM_011522427.1:c.667+182_667+188delinsCCCCAGA	XP_011520729.1:n.667+182_667+188delinsCCCCAGA
XR_932805.1:n.2176+182_2176+188delinsCCCCAGA
XM_011522424.3:c.2155+182_2155+188delinsCCCCAGA	XP_011520726.1:n.2155+182_2155+188delinsCCCCAGA
XM_017023043.2:c.1228+182_1228+188delinsCCCCAGA	XP_016878532.1:n.1228+182_1228+188delinsCCCCAGA
NM_005236.3:c.2017+182_2017+188delinsCCCCAGA MANE Select	NP_005227.1:n.2017+182_2017+188delinsCCCCAGA