Canonical Allele Identifier: CA2628447661

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997298-TTTATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997303_50997307del , CM000677.2:g.50997303_50997307del	GRCh38
NC_000015.9:g.51289500_51289504del , CM000677.1:g.51289500_51289504del	GRCh37
NC_000015.8:g.49076792_49076796del	NCBI36
NG_031875.1:g.93632_93636del
NG_031875.2:g.93632_93636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-23_2347-19del MANE Select	ENSP00000261842.5:n.2347-23_2347-19del
ENST00000261842.9:c.2347-23_2347-19del	ENSP00000261842.5:n.2347-23_2347-19del
ENST00000558439.5:c.*1471-23_*1471-19del	ENSP00000452712.1:n.*1471-23_*1471-19del
ENST00000560508.1:c.2122-23_2122-19del	ENSP00000452976.1:n.2122-23_2122-19del
ENST00000561393.5:c.*1391-23_*1391-19del	ENSP00000452711.1:n.*1391-23_*1391-19del
NM_001252127.1:c.2122-23_2122-19del	NP_001239056.1:n.2122-23_2122-19del
NM_007347.4:c.2347-23_2347-19del	NP_031373.2:n.2347-23_2347-19del
XM_005254264.2:c.2122-23_2122-19del	XP_005254321.1:n.2122-23_2122-19del
XM_006720447.2:c.2122-23_2122-19del	XP_006720510.1:n.2122-23_2122-19del
XM_011521408.1:c.2167-23_2167-19del	XP_011519710.1:n.2167-23_2167-19del
XM_011521409.1:c.997-23_997-19del	XP_011519711.1:n.997-23_997-19del
XM_005254264.4:c.2122-23_2122-19del	XP_005254321.1:n.2122-23_2122-19del
XM_006720447.4:c.2122-23_2122-19del	XP_006720510.1:n.2122-23_2122-19del
XM_017022042.2:c.1465-23_1465-19del	XP_016877531.1:n.1465-23_1465-19del
XR_001751183.1:n.2454-23_2454-19del
XR_001751184.1:n.2330-23_2330-19del
NM_007347.5:c.2347-23_2347-19del MANE Select	NP_031373.2:n.2347-23_2347-19del
NM_001252127.2:c.2122-23_2122-19del	NP_001239056.1:n.2122-23_2122-19del