Canonical Allele Identifier: CA2209081267

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944395_13944411delinsGGTGGCATTTTTTACAT , CM000678.2:g.13944395_13944411delinsGGTGGCATTTTTTACAT	GRCh38
NC_000016.9:g.14038252_14038268delinsGGTGGCATTTTTTACAT , CM000678.1:g.14038252_14038268delinsGGTGGCATTTTTTACAT	GRCh37
NC_000016.8:g.13945753_13945769delinsGGTGGCATTTTTTACAT	NCBI36
NG_011442.1:g.29239_29255delinsGGTGGCATTTTTTACAT , LRG_463:g.29239_29255delinsGGTGGCATTTTTTACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2043-328_2043-312delinsGGTGGCATTTTTTACAT	ENSP00000507912.1:n.2043-328_2043-312delinsGGTGGCATTTTTTACAT
ENST00000683962.1:c.*1599-328_*1599-312delinsGGTGGCATTTTTTACAT	ENSP00000506854.1:n.*1599-328_*1599-312delinsGGTGGCATTTTTTACA...
ENST00000311895.8:c.1905-328_1905-312delinsGGTGGCATTTTTTACAT MANE Select	ENSP00000310520.7:n.1905-328_1905-312delinsGGTGGCATTTTTTACAT
ENST00000311895.7:c.1905-328_1905-312delinsGGTGGCATTTTTTACAT	ENSP00000310520.7:n.1905-328_1905-312delinsGGTGGCATTTTTTACAT
ENST00000389138.7:n.1182-328_1182-312delinsGGTGGCATTTTTTACAT
ENST00000462862.1:c.217+300_218-312delinsGGTGGCATTTTTTACAT	ENSP00000461322.1:n.217+300_218-312delinsGGTGGCATTTTTTACAT
NM_005236.2:c.1905-328_1905-312delinsGGTGGCATTTTTTACAT , LRG_463t1:c.1905-328_1905-312delinsGGTGGCATTTTTTACAT	NP_005227.1:n.1905-328_1905-312delinsGGTGGCATTTTTTACAT
XM_011522424.1:c.2043-328_2043-312delinsGGTGGCATTTTTTACAT	XP_011520726.1:n.2043-328_2043-312delinsGGTGGCATTTTTTACAT
XM_011522425.1:c.1362-328_1362-312delinsGGTGGCATTTTTTACAT	XP_011520727.1:n.1362-328_1362-312delinsGGTGGCATTTTTTACAT
XM_011522426.1:c.1116-328_1116-312delinsGGTGGCATTTTTTACAT	XP_011520728.1:n.1116-328_1116-312delinsGGTGGCATTTTTTACAT
XM_011522427.1:c.555-328_555-312delinsGGTGGCATTTTTTACAT	XP_011520729.1:n.555-328_555-312delinsGGTGGCATTTTTTACAT
XR_932805.1:n.2064-328_2064-312delinsGGTGGCATTTTTTACAT
XM_011522424.3:c.2043-328_2043-312delinsGGTGGCATTTTTTACAT	XP_011520726.1:n.2043-328_2043-312delinsGGTGGCATTTTTTACAT
XM_017023043.2:c.1116-328_1116-312delinsGGTGGCATTTTTTACAT	XP_016878532.1:n.1116-328_1116-312delinsGGTGGCATTTTTTACAT
NM_005236.3:c.1905-328_1905-312delinsGGTGGCATTTTTTACAT MANE Select	NP_005227.1:n.1905-328_1905-312delinsGGTGGCATTTTTTACAT