Canonical Allele Identifier: CA2628447656

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997291-ATTTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997295_50997299del , CM000677.2:g.50997295_50997299del	GRCh38
NC_000015.9:g.51289492_51289496del , CM000677.1:g.51289492_51289496del	GRCh37
NC_000015.8:g.49076784_49076788del	NCBI36
NG_031875.1:g.93624_93628del
NG_031875.2:g.93624_93628del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-31_2347-27del MANE Select	ENSP00000261842.5:n.2347-31_2347-27del
ENST00000261842.9:c.2347-31_2347-27del	ENSP00000261842.5:n.2347-31_2347-27del
ENST00000558439.5:c.*1471-31_*1471-27del	ENSP00000452712.1:n.*1471-31_*1471-27del
ENST00000560508.1:c.2122-31_2122-27del	ENSP00000452976.1:n.2122-31_2122-27del
ENST00000561393.5:c.*1391-31_*1391-27del	ENSP00000452711.1:n.*1391-31_*1391-27del
NM_001252127.1:c.2122-31_2122-27del	NP_001239056.1:n.2122-31_2122-27del
NM_007347.4:c.2347-31_2347-27del	NP_031373.2:n.2347-31_2347-27del
XM_005254264.2:c.2122-31_2122-27del	XP_005254321.1:n.2122-31_2122-27del
XM_006720447.2:c.2122-31_2122-27del	XP_006720510.1:n.2122-31_2122-27del
XM_011521408.1:c.2167-31_2167-27del	XP_011519710.1:n.2167-31_2167-27del
XM_011521409.1:c.997-31_997-27del	XP_011519711.1:n.997-31_997-27del
XM_005254264.4:c.2122-31_2122-27del	XP_005254321.1:n.2122-31_2122-27del
XM_006720447.4:c.2122-31_2122-27del	XP_006720510.1:n.2122-31_2122-27del
XM_017022042.2:c.1465-31_1465-27del	XP_016877531.1:n.1465-31_1465-27del
XR_001751183.1:n.2454-31_2454-27del
XR_001751184.1:n.2330-31_2330-27del
NM_007347.5:c.2347-31_2347-27del MANE Select	NP_031373.2:n.2347-31_2347-27del
NM_001252127.2:c.2122-31_2122-27del	NP_001239056.1:n.2122-31_2122-27del