Canonical Allele Identifier: CA2647215313

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113900355-A-AAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900356_113900359dup , CM000663.2:g.113900356_113900359dup	GRCh38
NC_000001.10:g.114442978_114442981dup , CM000663.1:g.114442978_114442981dup	GRCh37
NC_000001.9:g.114244501_114244504dup	NCBI36
NG_031901.1:g.9761_9764dup
NG_057565.1:g.738_741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.434_437dup (AP4B1)	ENSP00000358577.2:p.Phe146LeufsTer11
ENST00000369567.6:c.155_158dup (AP4B1)	ENSP00000358580.1:p.Phe53LeufsTer11
ENST00000369571.3:c.659_662dup (AP4B1)	ENSP00000358584.3:p.Phe221LeufsTer11
ENST00000432415.6:c.155_158dup (AP4B1)	ENSP00000393622.2:p.Phe53LeufsTer11
ENST00000460653.2:c.659_662dup (AP4B1)	ENSP00000518881.1:p.Phe221LeufsTer11
ENST00000484201.6:c.434_437dup (AP4B1)	ENSP00000518883.1:p.Phe146LeufsTer11
ENST00000489092.6:c.*327_*330dup (AP4B1)	ENSP00000518884.1:n.*327_*330dup
ENST00000489499.6:c.*1_*4dup (AP4B1)	ENSP00000518882.1:n.*1_*4dup
ENST00000713588.1:c.659_662dup (AP4B1)	ENSP00000518880.1:p.Phe221LeufsTer11
ENST00000713590.1:c.659_662dup (AP4B1)	ENSP00000518886.1:p.Phe221LeufsTer11
ENST00000369569.6:c.659_662dup (AP4B1) MANE Select	ENSP00000358582.1:p.Phe221LeufsTer11
ENST00000256658.8:c.659_662dup (AP4B1)	ENSP00000256658.4:p.Phe221LeufsTer11
ENST00000369564.5:c.434_437dup (AP4B1)	ENSP00000358577.1:p.Phe146LeufsTer11
ENST00000369567.5:c.155_158dup (AP4B1)	ENSP00000358580.1:p.Phe53LeufsTer11
ENST00000369569.5:c.659_662dup (AP4B1)	ENSP00000358582.1:p.Phe221LeufsTer11
ENST00000369571.2:c.659_662dup (AP4B1)	ENSP00000358584.2:p.Phe221LeufsTer11
ENST00000432415.5:c.155_158dup (AP4B1)	ENSP00000393622.1:p.Phe53LeufsTer11
ENST00000472122.1:n.555_558dup (AP4B1)
ENST00000484201.5:n.625_628dup (AP4B1)
ENST00000489092.5:n.658_661dup (AP4B1)
ENST00000489499.5:n.627_630dup (AP4B1)
NM_001253852.1:c.659_662dup (AP4B1)	NP_001240781.1:p.Phe221LeufsTer11
NM_001253852.2:c.659_662dup (AP4B1)	NP_001240781.1:p.Phe221LeufsTer11
NM_001253853.1:c.362_365dup (AP4B1)	NP_001240782.1:p.Phe122LeufsTer11
NM_001253853.2:c.362_365dup (AP4B1)	NP_001240782.1:p.Phe122LeufsTer11
NM_001308312.1:c.155_158dup (AP4B1)	NP_001295241.1:p.Phe53LeufsTer11
NM_006594.3:c.659_662dup (AP4B1)	NP_006585.2:p.Phe221LeufsTer11
NM_006594.4:c.659_662dup (AP4B1)	NP_006585.2:p.Phe221LeufsTer11
NR_037864.1:n.853_856dup (AP4B1-AS1)
NR_125965.1:n.1021_1024dup (AP4B1-AS1)
XM_005270381.2:c.659_662dup (AP4B1)	XP_005270438.1:p.Phe221LeufsTer11
XM_005270382.3:c.659_662dup (AP4B1)	XP_005270439.1:p.Phe221LeufsTer11
XM_011540523.1:c.434_437dup (AP4B1)	XP_011538825.1:p.Phe146LeufsTer11
XM_011540524.1:c.434_437dup (AP4B1)	XP_011538826.1:p.Phe146LeufsTer11
XM_011540525.1:c.380_383dup (AP4B1)	XP_011538827.1:p.Phe128LeufsTer11
XM_011540527.1:c.41_44dup (AP4B1)	XP_011538829.1:p.Phe15LeufsTer11
XR_246227.1:n.841_844dup (AP4B1)
XR_246228.2:n.841_844dup (AP4B1)
XM_011540523.3:c.434_437dup (AP4B1)	XP_011538825.1:p.Phe146LeufsTer11
XM_011540525.3:c.380_383dup (AP4B1)	XP_011538827.1:p.Phe128LeufsTer11
XM_017000089.2:c.659_662dup (AP4B1)	XP_016855578.1:p.Phe221LeufsTer11
XM_017000090.1:c.155_158dup (AP4B1)	XP_016855579.1:p.Phe53LeufsTer11
XM_017000091.2:c.380_383dup (AP4B1)	XP_016855580.1:p.Phe128LeufsTer11
XM_017000092.2:c.-586_-583dup (AP4B1)	XP_016855581.1:n.-586_-583dup
XM_017000093.2:c.659_662dup (AP4B1)	XP_016855582.1:p.Phe221LeufsTer11
XM_024452422.1:c.380_383dup (AP4B1)	XP_024308190.1:p.Phe128LeufsTer11
XM_024452423.1:c.659_662dup (AP4B1)	XP_024308191.1:p.Phe221LeufsTer11
XM_024452435.1:c.434_437dup (AP4B1)	XP_024308203.1:p.Phe146LeufsTer11
XM_024452441.1:c.155_158dup (AP4B1)	XP_024308209.1:p.Phe53LeufsTer11
XR_001736928.2:n.861_864dup (AP4B1)
XR_001736930.2:n.861_864dup (AP4B1)
XR_002958805.1:n.861_864dup (AP4B1)
XR_002958806.1:n.861_864dup (AP4B1)
XR_002958807.1:n.741_744dup (AP4B1)
NM_001253852.3:c.659_662dup (AP4B1) MANE Select	NP_001240781.1:p.Phe221LeufsTer11
NM_001253853.3:c.362_365dup (AP4B1)	NP_001240782.1:p.Phe122LeufsTer11
NM_001308312.2:c.155_158dup (AP4B1)	NP_001295241.1:p.Phe53LeufsTer11
NM_006594.5:c.659_662dup (AP4B1)	NP_006585.2:p.Phe221LeufsTer11