Canonical Allele Identifier: CA7559039

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50948203_50948213del , CM000677.2:g.50948203_50948213del	GRCh38
NC_000015.9:g.51240400_51240410del , CM000677.1:g.51240400_51240410del	GRCh37
NC_000015.8:g.49027692_49027702del	NCBI36
NG_031875.1:g.44532_44542del
NG_031875.2:g.44532_44542del

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1316+44_1316+54del MANE Select	NP_031373.2:n.1316+44_1316+54del
ENST00000261842.10:c.1316+44_1316+54del MANE Select	ENSP00000261842.5:n.1316+44_1316+54del
NM_001252127.1:c.1091+44_1091+54del	NP_001239056.1:n.1091+44_1091+54del
NM_001252127.2:c.1091+44_1091+54del	NP_001239056.1:n.1091+44_1091+54del
NM_007347.4:c.1316+44_1316+54del	NP_031373.2:n.1316+44_1316+54del
ENST00000261842.9:c.1316+44_1316+54del	ENSP00000261842.5:n.1316+44_1316+54del
ENST00000558439.5:c.*438+44_*438+54del	ENSP00000452712.1:n.*438+44_*438+54del
ENST00000560508.1:c.1091+44_1091+54del	ENSP00000452976.1:n.1091+44_1091+54del
ENST00000561393.5:c.*360+44_*360+54del	ENSP00000452711.1:n.*360+44_*360+54del
ENST00000561441.5:c.*177+44_*177+54del	ENSP00000453112.1:n.*177+44_*177+54del
XM_005254264.2:c.1091+44_1091+54del	XP_005254321.1:n.1091+44_1091+54del
XM_005254264.4:c.1091+44_1091+54del	XP_005254321.1:n.1091+44_1091+54del
XM_006720447.2:c.1091+44_1091+54del	XP_006720510.1:n.1091+44_1091+54del
XM_006720447.4:c.1091+44_1091+54del	XP_006720510.1:n.1091+44_1091+54del
XM_011521408.1:c.1136+44_1136+54del	XP_011519710.1:n.1136+44_1136+54del
XM_011521409.1:c.-37+44_-37+54del	XP_011519711.1:n.-37+44_-37+54del
XM_017022042.2:c.434+44_434+54del	XP_016877531.1:n.434+44_434+54del
XR_001751183.1:n.1423+44_1423+54del
XR_001751184.1:n.1423+44_1423+54del
XR_001751185.1:n.1423+44_1423+54del