Canonical Allele Identifier: CA270525665

Gene: AP4E1

Linked Data

• dbSNP Id: rs773492199
• gnomAD v4: 15-50997301-ATAT-A
• MyVariant Identifiers: chr15:g.51289499_51289501del (hg19) ; chr15:g.50997302_50997304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997308_50997310del , CM000677.2:g.50997308_50997310del	GRCh38
NC_000015.9:g.51289505_51289507del , CM000677.1:g.51289505_51289507del	GRCh37
NC_000015.8:g.49076797_49076799del	NCBI36
NG_031875.1:g.93637_93639del
NG_031875.2:g.93637_93639del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-18_2347-16del MANE Select	ENSP00000261842.5:n.2347-18_2347-16del
ENST00000261842.9:c.2347-18_2347-16del	ENSP00000261842.5:n.2347-18_2347-16del
ENST00000558439.5:c.*1471-18_*1471-16del	ENSP00000452712.1:n.*1471-18_*1471-16del
ENST00000560508.1:c.2122-18_2122-16del	ENSP00000452976.1:n.2122-18_2122-16del
ENST00000561393.5:c.*1391-18_*1391-16del	ENSP00000452711.1:n.*1391-18_*1391-16del
NM_001252127.1:c.2122-18_2122-16del	NP_001239056.1:n.2122-18_2122-16del
NM_007347.4:c.2347-18_2347-16del	NP_031373.2:n.2347-18_2347-16del
XM_005254264.2:c.2122-18_2122-16del	XP_005254321.1:n.2122-18_2122-16del
XM_006720447.2:c.2122-18_2122-16del	XP_006720510.1:n.2122-18_2122-16del
XM_011521408.1:c.2167-18_2167-16del	XP_011519710.1:n.2167-18_2167-16del
XM_011521409.1:c.997-18_997-16del	XP_011519711.1:n.997-18_997-16del
XM_005254264.4:c.2122-18_2122-16del	XP_005254321.1:n.2122-18_2122-16del
XM_006720447.4:c.2122-18_2122-16del	XP_006720510.1:n.2122-18_2122-16del
XM_017022042.2:c.1465-18_1465-16del	XP_016877531.1:n.1465-18_1465-16del
XR_001751183.1:n.2454-18_2454-16del
XR_001751184.1:n.2330-18_2330-16del
NM_007347.5:c.2347-18_2347-16del MANE Select	NP_031373.2:n.2347-18_2347-16del
NM_001252127.2:c.2122-18_2122-16del	NP_001239056.1:n.2122-18_2122-16del