Canonical Allele Identifier: CA7910308

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930855dup , CM000678.2:g.13930855dup	GRCh38
NC_000016.9:g.14024712dup , CM000678.1:g.14024712dup	GRCh37
NC_000016.8:g.13932213dup	NCBI36
NG_011442.1:g.15699dup , LRG_463:g.15699dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.938dup MANE Select	NP_005227.1:p.Arg314GlufsTer17
ENST00000311895.8:c.938dup MANE Select	ENSP00000310520.7:p.Arg314GlufsTer17
NM_005236.2:c.938dup , LRG_463t1:c.938dup	NP_005227.1:p.Arg314GlufsTer17
ENST00000311895.7:c.938dup	ENSP00000310520.7:p.Arg314GlufsTer17
ENST00000574194.1:c.465dup
ENST00000574781.1:n.615dup
ENST00000575156.5:c.938dup	ENSP00000459933.1:p.Arg314GlufsTer17
ENST00000682552.1:n.926dup
ENST00000682568.1:n.1016dup
ENST00000682617.1:c.1076dup	ENSP00000507912.1:p.Arg360GlufsTer17
ENST00000682826.1:c.*252dup	ENSP00000507274.1:n.*252dup
ENST00000682909.1:n.2978dup
ENST00000683277.1:n.2583dup
ENST00000683407.1:n.946dup
ENST00000683962.1:c.*632dup	ENSP00000506854.1:n.*632dup
XM_011522424.1:c.1076dup	XP_011520726.1:p.Arg360GlufsTer17
XM_011522424.3:c.1076dup	XP_011520726.1:p.Arg360GlufsTer17
XM_011522425.1:c.395dup	XP_011520727.1:p.Arg133GlufsTer17
XM_011522426.1:c.149dup	XP_011520728.1:p.Arg51GlufsTer17
XM_017023043.2:c.149dup	XP_016878532.1:p.Arg51GlufsTer17
XR_932805.1:n.1097dup