Canonical Allele Identifier: CA658824692

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50993513_50993514dup , CM000677.2:g.50993513_50993514dup	GRCh38
NC_000015.9:g.51285710_51285711dup , CM000677.1:g.51285710_51285711dup	GRCh37
NC_000015.8:g.49073002_49073003dup	NCBI36
NG_031875.1:g.89842_89843dup
NG_031875.2:g.89842_89843dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.2234_2235dup MANE Select	NP_031373.2:p.Thr746Ter
ENST00000261842.10:c.2234_2235dup MANE Select	ENSP00000261842.5:p.Thr746Ter
NM_001252127.1:c.2009_2010dup	NP_001239056.1:p.Thr671Ter
NM_001252127.2:c.2009_2010dup	NP_001239056.1:p.Thr671Ter
NM_007347.4:c.2234_2235dup	NP_031373.2:p.Thr746Ter
ENST00000261842.9:c.2234_2235dup	ENSP00000261842.5:p.Thr746Ter
ENST00000558439.5:c.*1358_*1359dup	ENSP00000452712.1:n.*1358_*1359dup
ENST00000560508.1:c.2009_2010dup	ENSP00000452976.1:p.Thr671Ter
ENST00000561393.5:c.*1278_*1279dup	ENSP00000452711.1:n.*1278_*1279dup
XM_005254264.2:c.2009_2010dup	XP_005254321.1:p.Thr671Ter
XM_005254264.4:c.2009_2010dup	XP_005254321.1:p.Thr671Ter
XM_006720447.2:c.2009_2010dup	XP_006720510.1:p.Thr671Ter
XM_006720447.4:c.2009_2010dup	XP_006720510.1:p.Thr671Ter
XM_011521408.1:c.2054_2055dup	XP_011519710.1:p.Thr686Ter
XM_011521409.1:c.884_885dup	XP_011519711.1:p.Thr296Ter
XM_017022042.2:c.1352_1353dup	XP_016877531.1:p.Thr452Ter
XR_001751183.1:n.2341_2342dup
XR_001751184.1:n.2217_2218dup