Canonical Allele Identifier: CA2647212616

Gene: AP4B1

Linked Data

• gnomAD v4: 1-113902527-TGTTTTCCCCAGTATTAAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902528_113902546del , CM000663.2:g.113902528_113902546del	GRCh38
NC_000001.10:g.114445150_114445168del , CM000663.1:g.114445150_114445168del	GRCh37
NC_000001.9:g.114246673_114246691del	NCBI36
NG_031901.1:g.7574_7592del
NG_057565.1:g.2910_2928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-661_114-643del	ENSP00000358577.2:n.114-661_114-643del
ENST00000369567.6:c.113+2059_113+2077del	ENSP00000358580.1:n.113+2059_113+2077del
ENST00000369571.3:c.338+92_338+110del	ENSP00000358584.3:n.338+92_338+110del
ENST00000432415.6:c.113+2059_113+2077del	ENSP00000393622.2:n.113+2059_113+2077del
ENST00000460653.2:c.338+92_338+110del	ENSP00000518881.1:n.338+92_338+110del
ENST00000484201.6:c.114-661_114-643del	ENSP00000518883.1:n.114-661_114-643del
ENST00000489092.6:c.*6+92_*6+110del	ENSP00000518884.1:n.*6+92_*6+110del
ENST00000489499.6:c.338+92_338+110del	ENSP00000518882.1:n.338+92_338+110del
ENST00000713588.1:c.338+92_338+110del	ENSP00000518880.1:n.338+92_338+110del
ENST00000713590.1:c.338+92_338+110del	ENSP00000518886.1:n.338+92_338+110del
ENST00000369569.6:c.338+92_338+110del MANE Select	ENSP00000358582.1:n.338+92_338+110del
ENST00000256658.8:c.338+92_338+110del	ENSP00000256658.4:n.338+92_338+110del
ENST00000369564.5:c.114-661_114-643del	ENSP00000358577.1:n.114-661_114-643del
ENST00000369567.5:c.113+2059_113+2077del	ENSP00000358580.1:n.113+2059_113+2077del
ENST00000369569.5:c.338+92_338+110del	ENSP00000358582.1:n.338+92_338+110del
ENST00000369571.2:c.338+92_338+110del	ENSP00000358584.2:n.338+92_338+110del
ENST00000432415.5:c.113+2059_113+2077del	ENSP00000393622.1:n.113+2059_113+2077del
ENST00000484201.5:n.305-661_305-643del
ENST00000489092.5:n.337+92_337+110del
ENST00000489499.5:n.454+92_454+110del
NM_001253852.1:c.338+92_338+110del	NP_001240781.1:n.338+92_338+110del
NM_001253852.2:c.338+92_338+110del	NP_001240781.1:n.338+92_338+110del
NM_001253853.1:c.41+92_41+110del	NP_001240782.1:n.41+92_41+110del
NM_001253853.2:c.41+92_41+110del	NP_001240782.1:n.41+92_41+110del
NM_001308312.1:c.113+2059_113+2077del	NP_001295241.1:n.113+2059_113+2077del
NM_006594.3:c.338+92_338+110del	NP_006585.2:n.338+92_338+110del
NM_006594.4:c.338+92_338+110del	NP_006585.2:n.338+92_338+110del
XM_005270381.2:c.338+92_338+110del	XP_005270438.1:n.338+92_338+110del
XM_005270382.3:c.338+92_338+110del	XP_005270439.1:n.338+92_338+110del
XM_011540523.1:c.114-661_114-643del	XP_011538825.1:n.114-661_114-643del
XM_011540524.1:c.114-661_114-643del	XP_011538826.1:n.114-661_114-643del
XM_011540525.1:c.338+92_338+110del	XP_011538827.1:n.338+92_338+110del
XM_011540527.1:c.-133+92_-133+110del	XP_011538829.1:n.-133+92_-133+110del
XR_246227.1:n.520+92_520+110del
XR_246228.2:n.520+92_520+110del
XM_011540523.3:c.114-661_114-643del	XP_011538825.1:n.114-661_114-643del
XM_011540525.3:c.338+92_338+110del	XP_011538827.1:n.338+92_338+110del
XM_017000089.2:c.338+92_338+110del	XP_016855578.1:n.338+92_338+110del
XM_017000090.1:c.113+2059_113+2077del	XP_016855579.1:n.113+2059_113+2077del
XM_017000091.2:c.338+92_338+110del	XP_016855580.1:n.338+92_338+110del
XM_017000092.2:c.-907+92_-907+110del	XP_016855581.1:n.-907+92_-907+110del
XM_017000093.2:c.338+92_338+110del	XP_016855582.1:n.338+92_338+110del
XM_024452422.1:c.338+92_338+110del	XP_024308190.1:n.338+92_338+110del
XM_024452423.1:c.338+92_338+110del	XP_024308191.1:n.338+92_338+110del
XM_024452435.1:c.114-661_114-643del	XP_024308203.1:n.114-661_114-643del
XM_024452441.1:c.113+2059_113+2077del	XP_024308209.1:n.113+2059_113+2077del
XR_001736928.2:n.540+92_540+110del
XR_001736930.2:n.540+92_540+110del
XR_002958805.1:n.540+92_540+110del
XR_002958806.1:n.540+92_540+110del
XR_002958807.1:n.420+92_420+110del
NM_001253852.3:c.338+92_338+110del MANE Select	NP_001240781.1:n.338+92_338+110del
NM_001253853.3:c.41+92_41+110del	NP_001240782.1:n.41+92_41+110del
NM_001308312.2:c.113+2059_113+2077del	NP_001295241.1:n.113+2059_113+2077del
NM_006594.5:c.338+92_338+110del	NP_006585.2:n.338+92_338+110del