Canonical Allele Identifier: CA2695220834

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997391dup , CM000677.2:g.50997391dup	GRCh38
NC_000015.9:g.51289588dup , CM000677.1:g.51289588dup	GRCh37
NC_000015.8:g.49076880dup	NCBI36
NG_031875.1:g.93720dup
NG_031875.2:g.93720dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2412dup MANE Select	ENSP00000261842.5:p.Gly805TrpfsTer8
ENST00000261842.9:c.2412dup	ENSP00000261842.5:p.Gly805TrpfsTer8
ENST00000558439.5:c.*1536dup	ENSP00000452712.1:n.*1536dup
ENST00000560508.1:c.2187dup	ENSP00000452976.1:p.Gly730TrpfsTer8
ENST00000561393.5:c.*1456dup	ENSP00000452711.1:n.*1456dup
NM_001252127.1:c.2187dup	NP_001239056.1:p.Gly730TrpfsTer8
NM_007347.4:c.2412dup	NP_031373.2:p.Gly805TrpfsTer8
XM_005254264.2:c.2187dup	XP_005254321.1:p.Gly730TrpfsTer8
XM_006720447.2:c.2187dup	XP_006720510.1:p.Gly730TrpfsTer8
XM_011521408.1:c.2232dup	XP_011519710.1:p.Gly745TrpfsTer8
XM_011521409.1:c.1062dup	XP_011519711.1:p.Gly355TrpfsTer8
XM_005254264.4:c.2187dup	XP_005254321.1:p.Gly730TrpfsTer8
XM_006720447.4:c.2187dup	XP_006720510.1:p.Gly730TrpfsTer8
XM_017022042.2:c.1530dup	XP_016877531.1:p.Gly511TrpfsTer8
XR_001751183.1:n.2519dup
XR_001751184.1:n.2395dup
NM_007347.5:c.2412dup MANE Select	NP_031373.2:p.Gly805TrpfsTer8
NM_001252127.2:c.2187dup	NP_001239056.1:p.Gly730TrpfsTer8