Canonical Allele Identifier: CA270515274

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50928726_50928727del , CM000677.2:g.50928726_50928727del	GRCh38
NC_000015.9:g.51220923_51220924del , CM000677.1:g.51220923_51220924del	GRCh37
NC_000015.8:g.49008215_49008216del	NCBI36
NG_031875.1:g.25055_25056del
NG_031875.2:g.25055_25056del

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.543-283_543-282del MANE Select	NP_031373.2:n.543-283_543-282del
ENST00000261842.10:c.543-283_543-282del MANE Select	ENSP00000261842.5:n.543-283_543-282del
NM_001252127.1:c.318-283_318-282del	NP_001239056.1:n.318-283_318-282del
NM_001252127.2:c.318-283_318-282del	NP_001239056.1:n.318-283_318-282del
NM_007347.4:c.543-283_543-282del	NP_031373.2:n.543-283_543-282del
ENST00000261842.9:c.543-283_543-282del	ENSP00000261842.5:n.543-283_543-282del
ENST00000558439.5:c.543-283_543-282del	ENSP00000452712.1:n.543-283_543-282del
ENST00000560508.1:c.318-283_318-282del	ENSP00000452976.1:n.318-283_318-282del
ENST00000561393.5:c.318-283_318-282del	ENSP00000452711.1:n.318-283_318-282del
ENST00000561441.5:c.543-283_543-282del	ENSP00000453112.1:n.543-283_543-282del
XM_005254264.2:c.318-283_318-282del	XP_005254321.1:n.318-283_318-282del
XM_005254264.4:c.318-283_318-282del	XP_005254321.1:n.318-283_318-282del
XM_006720447.2:c.318-283_318-282del	XP_006720510.1:n.318-283_318-282del
XM_006720447.4:c.318-283_318-282del	XP_006720510.1:n.318-283_318-282del
XM_011521408.1:c.363-283_363-282del	XP_011519710.1:n.363-283_363-282del
XM_011521409.1:c.-898-283_-898-282del	XP_011519711.1:n.-898-283_-898-282del
XM_017022042.2:c.-428-283_-428-282del	XP_016877531.1:n.-428-283_-428-282del
XR_001751183.1:n.650-283_650-282del
XR_001751184.1:n.650-283_650-282del
XR_001751185.1:n.650-283_650-282del