Canonical Allele Identifier: CA2999925504

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948072dup , CM000678.2:g.13948072dup	GRCh38
NC_000016.9:g.14041929dup , CM000678.1:g.14041929dup	GRCh37
NC_000016.8:g.13949430dup	NCBI36
NG_011442.1:g.32916dup , LRG_463:g.32916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2614dup	ENSP00000507912.1:p.Ala872GlyfsTer11
ENST00000683962.1:c.*2170dup	ENSP00000506854.1:n.*2170dup
ENST00000311895.8:c.2476dup MANE Select	ENSP00000310520.7:p.Ala826GlyfsTer11
ENST00000311895.7:c.2476dup	ENSP00000310520.7:p.Ala826GlyfsTer11
ENST00000389138.7:n.1753dup
NM_005236.2:c.2476dup , LRG_463t1:c.2476dup	NP_005227.1:p.Ala826GlyfsTer11
XM_011522424.1:c.2614dup	XP_011520726.1:p.Ala872GlyfsTer11
XM_011522425.1:c.1933dup	XP_011520727.1:p.Ala645GlyfsTer11
XM_011522426.1:c.1687dup	XP_011520728.1:p.Ala563GlyfsTer11
XM_011522427.1:c.1126dup	XP_011520729.1:p.Ala376GlyfsTer11
XR_932805.1:n.2635dup
XM_011522424.3:c.2614dup	XP_011520726.1:p.Ala872GlyfsTer11
XM_017023043.2:c.1687dup	XP_016878532.1:p.Ala563GlyfsTer11
NM_005236.3:c.2476dup MANE Select	NP_005227.1:p.Ala826GlyfsTer11