Canonical Allele Identifier: CA2580089728

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50958501dup , CM000677.2:g.50958501dup	GRCh38
NC_000015.9:g.51250698dup , CM000677.1:g.51250698dup	GRCh37
NC_000015.8:g.49037990dup	NCBI36
NG_031875.1:g.54830dup
NG_031875.2:g.54830dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1558dup MANE Select	NP_031373.2:p.Glu520GlyfsTer8
ENST00000261842.10:c.1558dup MANE Select	ENSP00000261842.5:p.Glu520GlyfsTer8
NM_001252127.1:c.1333dup	NP_001239056.1:p.Glu445GlyfsTer8
NM_001252127.2:c.1333dup	NP_001239056.1:p.Glu445GlyfsTer8
NM_007347.4:c.1558dup	NP_031373.2:p.Glu520GlyfsTer8
ENST00000261842.9:c.1558dup	ENSP00000261842.5:p.Glu520GlyfsTer8
ENST00000558439.5:c.*682dup	ENSP00000452712.1:n.*682dup
ENST00000560508.1:c.1333dup	ENSP00000452976.1:p.Glu445GlyfsTer8
ENST00000561393.5:c.*602dup	ENSP00000452711.1:n.*602dup
XM_005254264.2:c.1333dup	XP_005254321.1:p.Glu445GlyfsTer8
XM_005254264.4:c.1333dup	XP_005254321.1:p.Glu445GlyfsTer8
XM_006720447.2:c.1333dup	XP_006720510.1:p.Glu445GlyfsTer8
XM_006720447.4:c.1333dup	XP_006720510.1:p.Glu445GlyfsTer8
XM_011521408.1:c.1378dup	XP_011519710.1:p.Glu460GlyfsTer8
XM_011521409.1:c.208dup	XP_011519711.1:p.Glu70GlyfsTer8
XM_017022042.2:c.676dup	XP_016877531.1:p.Glu226GlyfsTer8
XR_001751183.1:n.1665dup
XR_001751184.1:n.1665dup
XR_001751185.1:n.1667dup