Canonical Allele Identifier: CA7559311

Gene: AP4E1

Linked Data

• dbSNP Id: rs750387724
• ExAC: 15:51289483 GA / G
• gnomAD v2: 15-51289483-GA-G
• gnomAD v3: 15-50997286-GA-G
• gnomAD v4: 15-50997286-GA-G
• MyVariant Identifiers: chr15:g.51289484del (hg19) ; chr15:g.50997288del (hg38) ; chr15:g.50997287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997288del , CM000677.2:g.50997288del	GRCh38
NC_000015.9:g.51289485del , CM000677.1:g.51289485del	GRCh37
NC_000015.8:g.49076777del	NCBI36
NG_031875.1:g.93617del
NG_031875.2:g.93617del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-38del MANE Select	ENSP00000261842.5:n.2347-38del
ENST00000261842.9:c.2347-38del	ENSP00000261842.5:n.2347-38del
ENST00000558439.5:c.*1471-38del	ENSP00000452712.1:n.*1471-38del
ENST00000560508.1:c.2122-38del	ENSP00000452976.1:n.2122-38del
ENST00000561393.5:c.*1391-38del	ENSP00000452711.1:n.*1391-38del
NM_001252127.1:c.2122-38del	NP_001239056.1:n.2122-38del
NM_007347.4:c.2347-38del	NP_031373.2:n.2347-38del
XM_005254264.2:c.2122-38del	XP_005254321.1:n.2122-38del
XM_006720447.2:c.2122-38del	XP_006720510.1:n.2122-38del
XM_011521408.1:c.2167-38del	XP_011519710.1:n.2167-38del
XM_011521409.1:c.997-38del	XP_011519711.1:n.997-38del
XM_005254264.4:c.2122-38del	XP_005254321.1:n.2122-38del
XM_006720447.4:c.2122-38del	XP_006720510.1:n.2122-38del
XM_017022042.2:c.1465-38del	XP_016877531.1:n.1465-38del
XR_001751183.1:n.2454-38del
XR_001751184.1:n.2330-38del
NM_007347.5:c.2347-38del MANE Select	NP_031373.2:n.2347-38del
NM_001252127.2:c.2122-38del	NP_001239056.1:n.2122-38del