Canonical Allele Identifier: CA2647212679

Gene: AP4B1

Linked Data

• dbSNP Id: rs2101043034
• gnomAD v4: 1-113902609-TAGGACCAGACAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902612_113902623del , CM000663.2:g.113902612_113902623del	GRCh38
NC_000001.10:g.114445234_114445245del , CM000663.1:g.114445234_114445245del	GRCh37
NC_000001.9:g.114246757_114246768del	NCBI36
NG_031901.1:g.7499_7510del
NG_057565.1:g.2994_3005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-736_114-725del	ENSP00000358577.2:n.114-736_114-725del
ENST00000369567.6:c.113+1984_113+1995del	ENSP00000358580.1:n.113+1984_113+1995del
ENST00000369571.3:c.338+17_338+28del	ENSP00000358584.3:n.338+17_338+28del
ENST00000432415.6:c.113+1984_113+1995del	ENSP00000393622.2:n.113+1984_113+1995del
ENST00000460653.2:c.338+17_338+28del	ENSP00000518881.1:n.338+17_338+28del
ENST00000484201.6:c.114-736_114-725del	ENSP00000518883.1:n.114-736_114-725del
ENST00000489092.6:c.*6+17_*6+28del	ENSP00000518884.1:n.*6+17_*6+28del
ENST00000489499.6:c.338+17_338+28del	ENSP00000518882.1:n.338+17_338+28del
ENST00000713588.1:c.338+17_338+28del	ENSP00000518880.1:n.338+17_338+28del
ENST00000713590.1:c.338+17_338+28del	ENSP00000518886.1:n.338+17_338+28del
ENST00000369569.6:c.338+17_338+28del MANE Select	ENSP00000358582.1:n.338+17_338+28del
ENST00000256658.8:c.338+17_338+28del	ENSP00000256658.4:n.338+17_338+28del
ENST00000369564.5:c.114-736_114-725del	ENSP00000358577.1:n.114-736_114-725del
ENST00000369567.5:c.113+1984_113+1995del	ENSP00000358580.1:n.113+1984_113+1995del
ENST00000369569.5:c.338+17_338+28del	ENSP00000358582.1:n.338+17_338+28del
ENST00000369571.2:c.338+17_338+28del	ENSP00000358584.2:n.338+17_338+28del
ENST00000432415.5:c.113+1984_113+1995del	ENSP00000393622.1:n.113+1984_113+1995del
ENST00000484201.5:n.305-736_305-725del
ENST00000489092.5:n.337+17_337+28del
ENST00000489499.5:n.454+17_454+28del
NM_001253852.1:c.338+17_338+28del	NP_001240781.1:n.338+17_338+28del
NM_001253852.2:c.338+17_338+28del	NP_001240781.1:n.338+17_338+28del
NM_001253853.1:c.41+17_41+28del	NP_001240782.1:n.41+17_41+28del
NM_001253853.2:c.41+17_41+28del	NP_001240782.1:n.41+17_41+28del
NM_001308312.1:c.113+1984_113+1995del	NP_001295241.1:n.113+1984_113+1995del
NM_006594.3:c.338+17_338+28del	NP_006585.2:n.338+17_338+28del
NM_006594.4:c.338+17_338+28del	NP_006585.2:n.338+17_338+28del
XM_005270381.2:c.338+17_338+28del	XP_005270438.1:n.338+17_338+28del
XM_005270382.3:c.338+17_338+28del	XP_005270439.1:n.338+17_338+28del
XM_011540523.1:c.114-736_114-725del	XP_011538825.1:n.114-736_114-725del
XM_011540524.1:c.114-736_114-725del	XP_011538826.1:n.114-736_114-725del
XM_011540525.1:c.338+17_338+28del	XP_011538827.1:n.338+17_338+28del
XM_011540527.1:c.-133+17_-133+28del	XP_011538829.1:n.-133+17_-133+28del
XR_246227.1:n.520+17_520+28del
XR_246228.2:n.520+17_520+28del
XM_011540523.3:c.114-736_114-725del	XP_011538825.1:n.114-736_114-725del
XM_011540525.3:c.338+17_338+28del	XP_011538827.1:n.338+17_338+28del
XM_017000089.2:c.338+17_338+28del	XP_016855578.1:n.338+17_338+28del
XM_017000090.1:c.113+1984_113+1995del	XP_016855579.1:n.113+1984_113+1995del
XM_017000091.2:c.338+17_338+28del	XP_016855580.1:n.338+17_338+28del
XM_017000092.2:c.-907+17_-907+28del	XP_016855581.1:n.-907+17_-907+28del
XM_017000093.2:c.338+17_338+28del	XP_016855582.1:n.338+17_338+28del
XM_024452422.1:c.338+17_338+28del	XP_024308190.1:n.338+17_338+28del
XM_024452423.1:c.338+17_338+28del	XP_024308191.1:n.338+17_338+28del
XM_024452435.1:c.114-736_114-725del	XP_024308203.1:n.114-736_114-725del
XM_024452441.1:c.113+1984_113+1995del	XP_024308209.1:n.113+1984_113+1995del
XR_001736928.2:n.540+17_540+28del
XR_001736930.2:n.540+17_540+28del
XR_002958805.1:n.540+17_540+28del
XR_002958806.1:n.540+17_540+28del
XR_002958807.1:n.420+17_420+28del
NM_001253852.3:c.338+17_338+28del MANE Select	NP_001240781.1:n.338+17_338+28del
NM_001253853.3:c.41+17_41+28del	NP_001240782.1:n.41+17_41+28del
NM_001308312.2:c.113+1984_113+1995del	NP_001295241.1:n.113+1984_113+1995del
NM_006594.5:c.338+17_338+28del	NP_006585.2:n.338+17_338+28del