Canonical Allele Identifier: CA2804135536

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997312_50997313insAT , CM000677.2:g.50997312_50997313insAT	GRCh38
NC_000015.9:g.51289509_51289510insAT , CM000677.1:g.51289509_51289510insAT	GRCh37
NC_000015.8:g.49076801_49076802insAT	NCBI36
NG_031875.1:g.93641_93642insAT
NG_031875.2:g.93641_93642insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-14_2347-13insAT MANE Select	ENSP00000261842.5:n.2347-14_2347-13insAT
ENST00000261842.9:c.2347-14_2347-13insAT	ENSP00000261842.5:n.2347-14_2347-13insAT
ENST00000558439.5:c.*1471-14_*1471-13insAT	ENSP00000452712.1:n.*1471-14_*1471-13insAT
ENST00000560508.1:c.2122-14_2122-13insAT	ENSP00000452976.1:n.2122-14_2122-13insAT
ENST00000561393.5:c.*1391-14_*1391-13insAT	ENSP00000452711.1:n.*1391-14_*1391-13insAT
NM_001252127.1:c.2122-14_2122-13insAT	NP_001239056.1:n.2122-14_2122-13insAT
NM_007347.4:c.2347-14_2347-13insAT	NP_031373.2:n.2347-14_2347-13insAT
XM_005254264.2:c.2122-14_2122-13insAT	XP_005254321.1:n.2122-14_2122-13insAT
XM_006720447.2:c.2122-14_2122-13insAT	XP_006720510.1:n.2122-14_2122-13insAT
XM_011521408.1:c.2167-14_2167-13insAT	XP_011519710.1:n.2167-14_2167-13insAT
XM_011521409.1:c.997-14_997-13insAT	XP_011519711.1:n.997-14_997-13insAT
XM_005254264.4:c.2122-14_2122-13insAT	XP_005254321.1:n.2122-14_2122-13insAT
XM_006720447.4:c.2122-14_2122-13insAT	XP_006720510.1:n.2122-14_2122-13insAT
XM_017022042.2:c.1465-14_1465-13insAT	XP_016877531.1:n.1465-14_1465-13insAT
XR_001751183.1:n.2454-14_2454-13insAT
XR_001751184.1:n.2330-14_2330-13insAT
NM_007347.5:c.2347-14_2347-13insAT MANE Select	NP_031373.2:n.2347-14_2347-13insAT
NM_001252127.2:c.2122-14_2122-13insAT	NP_001239056.1:n.2122-14_2122-13insAT