Canonical Allele Identifier: CA525630119

Gene: AP4B1 AP4B1-AS1

Linked Data

• dbSNP Id: rs1558090558
• gnomAD v2: 1-114443037-AAAC-A
• gnomAD v4: 1-113900415-AAAC-A
• MyVariant Identifiers: chr1:g.114443038_114443040del (hg19) ; chr1:g.113900416_113900418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113900418_113900420del , CM000663.2:g.113900418_113900420del	GRCh38
NC_000001.10:g.114443040_114443042del , CM000663.1:g.114443040_114443042del	GRCh37
NC_000001.9:g.114244563_114244565del	NCBI36
NG_031901.1:g.9702_9704del
NG_057565.1:g.800_802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.393-18_393-16del (AP4B1)	ENSP00000358577.2:n.393-18_393-16del
ENST00000369567.6:c.114-18_114-16del (AP4B1)	ENSP00000358580.1:n.114-18_114-16del
ENST00000369571.3:c.618-18_618-16del (AP4B1)	ENSP00000358584.3:n.618-18_618-16del
ENST00000432415.6:c.114-18_114-16del (AP4B1)	ENSP00000393622.2:n.114-18_114-16del
ENST00000460653.2:c.618-18_618-16del (AP4B1)	ENSP00000518881.1:n.618-18_618-16del
ENST00000484201.6:c.393-18_393-16del (AP4B1)	ENSP00000518883.1:n.393-18_393-16del
ENST00000489092.6:c.*286-18_*286-16del (AP4B1)	ENSP00000518884.1:n.*286-18_*286-16del
ENST00000489499.6:c.470-18_470-16del (AP4B1)	ENSP00000518882.1:n.470-18_470-16del
ENST00000713588.1:c.618-18_618-16del (AP4B1)	ENSP00000518880.1:n.618-18_618-16del
ENST00000713590.1:c.618-18_618-16del (AP4B1)	ENSP00000518886.1:n.618-18_618-16del
ENST00000369569.6:c.618-18_618-16del (AP4B1) MANE Select	ENSP00000358582.1:n.618-18_618-16del
ENST00000256658.8:c.618-18_618-16del (AP4B1)	ENSP00000256658.4:n.618-18_618-16del
ENST00000369564.5:c.393-18_393-16del (AP4B1)	ENSP00000358577.1:n.393-18_393-16del
ENST00000369567.5:c.114-18_114-16del (AP4B1)	ENSP00000358580.1:n.114-18_114-16del
ENST00000369569.5:c.618-18_618-16del (AP4B1)	ENSP00000358582.1:n.618-18_618-16del
ENST00000369571.2:c.618-18_618-16del (AP4B1)	ENSP00000358584.2:n.618-18_618-16del
ENST00000432415.5:c.114-18_114-16del (AP4B1)	ENSP00000393622.1:n.114-18_114-16del
ENST00000472122.1:n.514-18_514-16del (AP4B1)
ENST00000484201.5:n.584-18_584-16del (AP4B1)
ENST00000489092.5:n.617-18_617-16del (AP4B1)
ENST00000489499.5:n.586-18_586-16del (AP4B1)
NM_001253852.1:c.618-18_618-16del (AP4B1)	NP_001240781.1:n.618-18_618-16del
NM_001253852.2:c.618-18_618-16del (AP4B1)	NP_001240781.1:n.618-18_618-16del
NM_001253853.1:c.321-18_321-16del (AP4B1)	NP_001240782.1:n.321-18_321-16del
NM_001253853.2:c.321-18_321-16del (AP4B1)	NP_001240782.1:n.321-18_321-16del
NM_001308312.1:c.114-18_114-16del (AP4B1)	NP_001295241.1:n.114-18_114-16del
NM_006594.3:c.618-18_618-16del (AP4B1)	NP_006585.2:n.618-18_618-16del
NM_006594.4:c.618-18_618-16del (AP4B1)	NP_006585.2:n.618-18_618-16del
NR_037864.1:n.915_917del (AP4B1-AS1)
NR_125965.1:n.1083_1085del (AP4B1-AS1)
XM_005270381.2:c.618-18_618-16del (AP4B1)	XP_005270438.1:n.618-18_618-16del
XM_005270382.3:c.618-18_618-16del (AP4B1)	XP_005270439.1:n.618-18_618-16del
XM_011540523.1:c.393-18_393-16del (AP4B1)	XP_011538825.1:n.393-18_393-16del
XM_011540524.1:c.393-18_393-16del (AP4B1)	XP_011538826.1:n.393-18_393-16del
XM_011540525.1:c.339-18_339-16del (AP4B1)	XP_011538827.1:n.339-18_339-16del
XM_011540527.1:c.-1-18_-1-16del (AP4B1)	XP_011538829.1:n.-1-18_-1-16del
XR_246227.1:n.800-18_800-16del (AP4B1)
XR_246228.2:n.800-18_800-16del (AP4B1)
XM_011540523.3:c.393-18_393-16del (AP4B1)	XP_011538825.1:n.393-18_393-16del
XM_011540525.3:c.339-18_339-16del (AP4B1)	XP_011538827.1:n.339-18_339-16del
XM_017000089.2:c.618-18_618-16del (AP4B1)	XP_016855578.1:n.618-18_618-16del
XM_017000090.1:c.114-18_114-16del (AP4B1)	XP_016855579.1:n.114-18_114-16del
XM_017000091.2:c.339-18_339-16del (AP4B1)	XP_016855580.1:n.339-18_339-16del
XM_017000092.2:c.-627-18_-627-16del (AP4B1)	XP_016855581.1:n.-627-18_-627-16del
XM_017000093.2:c.618-18_618-16del (AP4B1)	XP_016855582.1:n.618-18_618-16del
XM_024452422.1:c.339-18_339-16del (AP4B1)	XP_024308190.1:n.339-18_339-16del
XM_024452423.1:c.618-18_618-16del (AP4B1)	XP_024308191.1:n.618-18_618-16del
XM_024452435.1:c.393-18_393-16del (AP4B1)	XP_024308203.1:n.393-18_393-16del
XM_024452441.1:c.114-18_114-16del (AP4B1)	XP_024308209.1:n.114-18_114-16del
XR_001736928.2:n.820-18_820-16del (AP4B1)
XR_001736930.2:n.820-18_820-16del (AP4B1)
XR_002958805.1:n.820-18_820-16del (AP4B1)
XR_002958806.1:n.820-18_820-16del (AP4B1)
XR_002958807.1:n.700-18_700-16del (AP4B1)
NM_001253852.3:c.618-18_618-16del (AP4B1) MANE Select	NP_001240781.1:n.618-18_618-16del
NM_001253853.3:c.321-18_321-16del (AP4B1)	NP_001240782.1:n.321-18_321-16del
NM_001308312.2:c.114-18_114-16del (AP4B1)	NP_001295241.1:n.114-18_114-16del
NM_006594.5:c.618-18_618-16del (AP4B1)	NP_006585.2:n.618-18_618-16del