Canonical Allele Identifier: CA2647213695

Gene: AP4B1 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113896536-C-CAAGTGCTCAACACTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113896537_113896538insAGTGCTCAACACTTGA , CM000663.2:g.113896537_113896538insAGTGCTCAACACTTGA	GRCh38
NC_000001.10:g.114439159_114439160insAGTGCTCAACACTTGA , CM000663.1:g.114439159_114439160insAGTGCTCAACACTTGA	GRCh37
NC_000001.9:g.114240682_114240683insAGTGCTCAACACTTGA	NCBI36
NG_031901.1:g.13583_13584insCAAGTGTTGAGCACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.1078-72_1078-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000358577.2:n.1078-72_1078-71insCAAGTGTTGAGCACTT
ENST00000369567.6:c.799-72_799-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000358580.1:n.799-72_799-71insCAAGTGTTGAGCACTT
ENST00000369571.3:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000358584.3:n.1303-72_1303-71insCAAGTGTTGAGCACTT
ENST00000432415.6:c.799-72_799-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000393622.2:n.799-72_799-71insCAAGTGTTGAGCACTT
ENST00000460653.2:c.*373-72_*373-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000518881.1:n.*373-72_*373-71insCAAGTGTTGAGCACTT
ENST00000484201.6:c.*53-72_*53-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000518883.1:n.*53-72_*53-71insCAAGTGTTGAGCACTT
ENST00000489499.6:c.*645-72_*645-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000518882.1:n.*645-72_*645-71insCAAGTGTTGAGCACTT
ENST00000713588.1:c.*414-72_*414-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000518880.1:n.*414-72_*414-71insCAAGTGTTGAGCACTT
ENST00000713590.1:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000518886.1:n.1303-72_1303-71insCAAGTGTTGAGCACTT
ENST00000369569.6:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1) MANE Select	ENSP00000358582.1:n.1303-72_1303-71insCAAGTGTTGAGCACTT
ENST00000256658.8:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000256658.4:n.1303-72_1303-71insCAAGTGTTGAGCACTT
ENST00000369567.5:c.799-72_799-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000358580.1:n.799-72_799-71insCAAGTGTTGAGCACTT
ENST00000369569.5:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	ENSP00000358582.1:n.1303-72_1303-71insCAAGTGTTGAGCACTT
ENST00000462591.1:n.1403_1404insCAAGTGTTGAGCACTT (AP4B1)
ENST00000479285.5:n.531-72_531-71insCAAGTGTTGAGCACTT (AP4B1)
ENST00000479801.1:n.137-72_137-71insCAAGTGTTGAGCACTT (AP4B1)
ENST00000484201.5:n.865-72_865-71insCAAGTGTTGAGCACTT (AP4B1)
NM_001253852.1:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001240781.1:n.1303-72_1303-71insCAAGTGTTGAGCACTT
NM_001253852.2:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001240781.1:n.1303-72_1303-71insCAAGTGTTGAGCACTT
NM_001253853.1:c.1006-72_1006-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001240782.1:n.1006-72_1006-71insCAAGTGTTGAGCACTT
NM_001253853.2:c.1006-72_1006-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001240782.1:n.1006-72_1006-71insCAAGTGTTGAGCACTT
NM_001308312.1:c.799-72_799-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001295241.1:n.799-72_799-71insCAAGTGTTGAGCACTT
NM_006594.3:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	NP_006585.2:n.1303-72_1303-71insCAAGTGTTGAGCACTT
NM_006594.4:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	NP_006585.2:n.1303-72_1303-71insCAAGTGTTGAGCACTT
NR_037864.1:n.247-1331_247-1330insAGTGCTCAACACTTGA (AP4B1-AS1)
NR_125965.1:n.415-1331_415-1330insAGTGCTCAACACTTGA (AP4B1-AS1)
XM_005270381.2:c.1199-499_1199-498insCAAGTGTTGAGCACTT (AP4B1)	XP_005270438.1:n.1199-499_1199-498insCAAGTGTTGAGCACTT
XM_011540523.1:c.1078-72_1078-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538825.1:n.1078-72_1078-71insCAAGTGTTGAGCACTT
XM_011540524.1:c.1078-72_1078-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538826.1:n.1078-72_1078-71insCAAGTGTTGAGCACTT
XM_011540525.1:c.1024-72_1024-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538827.1:n.1024-72_1024-71insCAAGTGTTGAGCACTT
XM_011540527.1:c.685-72_685-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538829.1:n.685-72_685-71insCAAGTGTTGAGCACTT
XM_011540528.1:c.328-72_328-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538830.1:n.328-72_328-71insCAAGTGTTGAGCACTT
XR_246227.1:n.1485-499_1485-498insCAAGTGTTGAGCACTT (AP4B1)
XM_011540523.3:c.1078-72_1078-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538825.1:n.1078-72_1078-71insCAAGTGTTGAGCACTT
XM_011540525.3:c.1024-72_1024-71insCAAGTGTTGAGCACTT (AP4B1)	XP_011538827.1:n.1024-72_1024-71insCAAGTGTTGAGCACTT
XM_017000089.2:c.1199-499_1199-498insCAAGTGTTGAGCACTT (AP4B1)	XP_016855578.1:n.1199-499_1199-498insCAAGTGTTGAGCACTT
XM_017000090.1:c.799-72_799-71insCAAGTGTTGAGCACTT (AP4B1)	XP_016855579.1:n.799-72_799-71insCAAGTGTTGAGCACTT
XM_017000091.2:c.920-499_920-498insCAAGTGTTGAGCACTT (AP4B1)	XP_016855580.1:n.920-499_920-498insCAAGTGTTGAGCACTT
XM_017000092.2:c.328-72_328-71insCAAGTGTTGAGCACTT (AP4B1)	XP_016855581.1:n.328-72_328-71insCAAGTGTTGAGCACTT
XM_024452422.1:c.1024-72_1024-71insCAAGTGTTGAGCACTT (AP4B1)	XP_024308190.1:n.1024-72_1024-71insCAAGTGTTGAGCACTT
XM_024452423.1:c.1199-499_1199-498insCAAGTGTTGAGCACTT (AP4B1)	XP_024308191.1:n.1199-499_1199-498insCAAGTGTTGAGCACTT
XM_024452435.1:c.974-499_974-498insCAAGTGTTGAGCACTT (AP4B1)	XP_024308203.1:n.974-499_974-498insCAAGTGTTGAGCACTT
XM_024452441.1:c.695-499_695-498insCAAGTGTTGAGCACTT (AP4B1)	XP_024308209.1:n.695-499_695-498insCAAGTGTTGAGCACTT
XR_001736928.2:n.1733-72_1733-71insCAAGTGTTGAGCACTT (AP4B1)
XR_001736930.2:n.1877-72_1877-71insCAAGTGTTGAGCACTT (AP4B1)
XR_002958805.1:n.1505-499_1505-498insCAAGTGTTGAGCACTT (AP4B1)
XR_002958806.1:n.1774-72_1774-71insCAAGTGTTGAGCACTT (AP4B1)
XR_002958807.1:n.1613-72_1613-71insCAAGTGTTGAGCACTT (AP4B1)
NM_001253852.3:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1) MANE Select	NP_001240781.1:n.1303-72_1303-71insCAAGTGTTGAGCACTT
NM_001253853.3:c.1006-72_1006-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001240782.1:n.1006-72_1006-71insCAAGTGTTGAGCACTT
NM_001308312.2:c.799-72_799-71insCAAGTGTTGAGCACTT (AP4B1)	NP_001295241.1:n.799-72_799-71insCAAGTGTTGAGCACTT
NM_006594.5:c.1303-72_1303-71insCAAGTGTTGAGCACTT (AP4B1)	NP_006585.2:n.1303-72_1303-71insCAAGTGTTGAGCACTT