Canonical Allele Identifier: CA2647215316

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113900376-GCCCCATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900377_113900383del , CM000663.2:g.113900377_113900383del	GRCh38
NC_000001.10:g.114442999_114443005del , CM000663.1:g.114442999_114443005del	GRCh37
NC_000001.9:g.114244522_114244528del	NCBI36
NG_031901.1:g.9737_9743del
NG_057565.1:g.759_765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.410_416del (AP4B1)	ENSP00000358577.2:p.Gln137ProfsTer6
ENST00000369567.6:c.131_137del (AP4B1)	ENSP00000358580.1:p.Gln44ProfsTer6
ENST00000369571.3:c.635_641del (AP4B1)	ENSP00000358584.3:p.Gln212ProfsTer6
ENST00000432415.6:c.131_137del (AP4B1)	ENSP00000393622.2:p.Gln44ProfsTer6
ENST00000460653.2:c.635_641del (AP4B1)	ENSP00000518881.1:p.Gln212ProfsTer6
ENST00000484201.6:c.410_416del (AP4B1)	ENSP00000518883.1:p.Gln137ProfsTer6
ENST00000489092.6:c.*303_*309del (AP4B1)	ENSP00000518884.1:n.*303_*309del
ENST00000489499.6:c.487_493del (AP4B1)	ENSP00000518882.1:p.Asn163ProfsTer3
ENST00000713588.1:c.635_641del (AP4B1)	ENSP00000518880.1:p.Gln212ProfsTer6
ENST00000713590.1:c.635_641del (AP4B1)	ENSP00000518886.1:p.Gln212ProfsTer6
ENST00000369569.6:c.635_641del (AP4B1) MANE Select	ENSP00000358582.1:p.Gln212ProfsTer6
ENST00000256658.8:c.635_641del (AP4B1)	ENSP00000256658.4:p.Gln212ProfsTer6
ENST00000369564.5:c.410_416del (AP4B1)	ENSP00000358577.1:p.Gln137ProfsTer6
ENST00000369567.5:c.131_137del (AP4B1)	ENSP00000358580.1:p.Gln44ProfsTer6
ENST00000369569.5:c.635_641del (AP4B1)	ENSP00000358582.1:p.Gln212ProfsTer6
ENST00000369571.2:c.635_641del (AP4B1)	ENSP00000358584.2:p.Gln212ProfsTer6
ENST00000432415.5:c.131_137del (AP4B1)	ENSP00000393622.1:p.Gln44ProfsTer6
ENST00000472122.1:n.531_537del (AP4B1)
ENST00000484201.5:n.601_607del (AP4B1)
ENST00000489092.5:n.634_640del (AP4B1)
ENST00000489499.5:n.603_609del (AP4B1)
NM_001253852.1:c.635_641del (AP4B1)	NP_001240781.1:p.Gln212ProfsTer6
NM_001253852.2:c.635_641del (AP4B1)	NP_001240781.1:p.Gln212ProfsTer6
NM_001253853.1:c.338_344del (AP4B1)	NP_001240782.1:p.Gln113ProfsTer6
NM_001253853.2:c.338_344del (AP4B1)	NP_001240782.1:p.Gln113ProfsTer6
NM_001308312.1:c.131_137del (AP4B1)	NP_001295241.1:p.Gln44ProfsTer6
NM_006594.3:c.635_641del (AP4B1)	NP_006585.2:p.Gln212ProfsTer6
NM_006594.4:c.635_641del (AP4B1)	NP_006585.2:p.Gln212ProfsTer6
NR_037864.1:n.874_880del (AP4B1-AS1)
NR_125965.1:n.1042_1048del (AP4B1-AS1)
XM_005270381.2:c.635_641del (AP4B1)	XP_005270438.1:p.Gln212ProfsTer6
XM_005270382.3:c.635_641del (AP4B1)	XP_005270439.1:p.Gln212ProfsTer6
XM_011540523.1:c.410_416del (AP4B1)	XP_011538825.1:p.Gln137ProfsTer6
XM_011540524.1:c.410_416del (AP4B1)	XP_011538826.1:p.Gln137ProfsTer6
XM_011540525.1:c.356_362del (AP4B1)	XP_011538827.1:p.Gln119ProfsTer6
XM_011540527.1:c.17_23del (AP4B1)	XP_011538829.1:p.Gln6ProfsTer6
XR_246227.1:n.817_823del (AP4B1)
XR_246228.2:n.817_823del (AP4B1)
XM_011540523.3:c.410_416del (AP4B1)	XP_011538825.1:p.Gln137ProfsTer6
XM_011540525.3:c.356_362del (AP4B1)	XP_011538827.1:p.Gln119ProfsTer6
XM_017000089.2:c.635_641del (AP4B1)	XP_016855578.1:p.Gln212ProfsTer6
XM_017000090.1:c.131_137del (AP4B1)	XP_016855579.1:p.Gln44ProfsTer6
XM_017000091.2:c.356_362del (AP4B1)	XP_016855580.1:p.Gln119ProfsTer6
XM_017000092.2:c.-610_-604del (AP4B1)	XP_016855581.1:n.-610_-604del
XM_017000093.2:c.635_641del (AP4B1)	XP_016855582.1:p.Gln212ProfsTer6
XM_024452422.1:c.356_362del (AP4B1)	XP_024308190.1:p.Gln119ProfsTer6
XM_024452423.1:c.635_641del (AP4B1)	XP_024308191.1:p.Gln212ProfsTer6
XM_024452435.1:c.410_416del (AP4B1)	XP_024308203.1:p.Gln137ProfsTer6
XM_024452441.1:c.131_137del (AP4B1)	XP_024308209.1:p.Gln44ProfsTer6
XR_001736928.2:n.837_843del (AP4B1)
XR_001736930.2:n.837_843del (AP4B1)
XR_002958805.1:n.837_843del (AP4B1)
XR_002958806.1:n.837_843del (AP4B1)
XR_002958807.1:n.717_723del (AP4B1)
NM_001253852.3:c.635_641del (AP4B1) MANE Select	NP_001240781.1:p.Gln212ProfsTer6
NM_001253853.3:c.338_344del (AP4B1)	NP_001240782.1:p.Gln113ProfsTer6
NM_001308312.2:c.131_137del (AP4B1)	NP_001295241.1:p.Gln44ProfsTer6
NM_006594.5:c.635_641del (AP4B1)	NP_006585.2:p.Gln212ProfsTer6