Canonical Allele Identifier: CA1189948473

Gene: AP4B1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902620_113902623delinsAGAG , CM000663.2:g.113902620_113902623delinsAGAG	GRCh38
NC_000001.10:g.114445242_114445245delinsAGAG , CM000663.1:g.114445242_114445245delinsAGAG	GRCh37
NC_000001.9:g.114246765_114246768delinsAGAG	NCBI36
NG_031901.1:g.7497_7500delinsCTCT
NG_057565.1:g.3002_3005delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-738_114-735delinsCTCT	ENSP00000358577.2:n.114-738_114-735delinsCTCT
ENST00000369567.6:c.113+1982_113+1985delinsCTCT	ENSP00000358580.1:n.113+1982_113+1985delinsCTCT
ENST00000369571.3:c.338+15_338+18delinsCTCT	ENSP00000358584.3:n.338+15_338+18delinsCTCT
ENST00000432415.6:c.113+1982_113+1985delinsCTCT	ENSP00000393622.2:n.113+1982_113+1985delinsCTCT
ENST00000460653.2:c.338+15_338+18delinsCTCT	ENSP00000518881.1:n.338+15_338+18delinsCTCT
ENST00000484201.6:c.114-738_114-735delinsCTCT	ENSP00000518883.1:n.114-738_114-735delinsCTCT
ENST00000489092.6:c.*6+15_*6+18delinsCTCT	ENSP00000518884.1:n.*6+15_*6+18delinsCTCT
ENST00000489499.6:c.338+15_338+18delinsCTCT	ENSP00000518882.1:n.338+15_338+18delinsCTCT
ENST00000713588.1:c.338+15_338+18delinsCTCT	ENSP00000518880.1:n.338+15_338+18delinsCTCT
ENST00000713590.1:c.338+15_338+18delinsCTCT	ENSP00000518886.1:n.338+15_338+18delinsCTCT
ENST00000369569.6:c.338+15_338+18delinsCTCT MANE Select	ENSP00000358582.1:n.338+15_338+18delinsCTCT
ENST00000256658.8:c.338+15_338+18delinsCTCT	ENSP00000256658.4:n.338+15_338+18delinsCTCT
ENST00000369564.5:c.114-738_114-735delinsCTCT	ENSP00000358577.1:n.114-738_114-735delinsCTCT
ENST00000369567.5:c.113+1982_113+1985delinsCTCT	ENSP00000358580.1:n.113+1982_113+1985delinsCTCT
ENST00000369569.5:c.338+15_338+18delinsCTCT	ENSP00000358582.1:n.338+15_338+18delinsCTCT
ENST00000369571.2:c.338+15_338+18delinsCTCT	ENSP00000358584.2:n.338+15_338+18delinsCTCT
ENST00000432415.5:c.113+1982_113+1985delinsCTCT	ENSP00000393622.1:n.113+1982_113+1985delinsCTCT
ENST00000484201.5:n.305-738_305-735delinsCTCT
ENST00000489092.5:n.337+15_337+18delinsCTCT
ENST00000489499.5:n.454+15_454+18delinsCTCT
NM_001253852.1:c.338+15_338+18delinsCTCT	NP_001240781.1:n.338+15_338+18delinsCTCT
NM_001253852.2:c.338+15_338+18delinsCTCT	NP_001240781.1:n.338+15_338+18delinsCTCT
NM_001253853.1:c.41+15_41+18delinsCTCT	NP_001240782.1:n.41+15_41+18delinsCTCT
NM_001253853.2:c.41+15_41+18delinsCTCT	NP_001240782.1:n.41+15_41+18delinsCTCT
NM_001308312.1:c.113+1982_113+1985delinsCTCT	NP_001295241.1:n.113+1982_113+1985delinsCTCT
NM_006594.3:c.338+15_338+18delinsCTCT	NP_006585.2:n.338+15_338+18delinsCTCT
NM_006594.4:c.338+15_338+18delinsCTCT	NP_006585.2:n.338+15_338+18delinsCTCT
XM_005270381.2:c.338+15_338+18delinsCTCT	XP_005270438.1:n.338+15_338+18delinsCTCT
XM_005270382.3:c.338+15_338+18delinsCTCT	XP_005270439.1:n.338+15_338+18delinsCTCT
XM_011540523.1:c.114-738_114-735delinsCTCT	XP_011538825.1:n.114-738_114-735delinsCTCT
XM_011540524.1:c.114-738_114-735delinsCTCT	XP_011538826.1:n.114-738_114-735delinsCTCT
XM_011540525.1:c.338+15_338+18delinsCTCT	XP_011538827.1:n.338+15_338+18delinsCTCT
XM_011540527.1:c.-133+15_-133+18delinsCTCT	XP_011538829.1:n.-133+15_-133+18delinsCTCT
XR_246227.1:n.520+15_520+18delinsCTCT
XR_246228.2:n.520+15_520+18delinsCTCT
XM_011540523.3:c.114-738_114-735delinsCTCT	XP_011538825.1:n.114-738_114-735delinsCTCT
XM_011540525.3:c.338+15_338+18delinsCTCT	XP_011538827.1:n.338+15_338+18delinsCTCT
XM_017000089.2:c.338+15_338+18delinsCTCT	XP_016855578.1:n.338+15_338+18delinsCTCT
XM_017000090.1:c.113+1982_113+1985delinsCTCT	XP_016855579.1:n.113+1982_113+1985delinsCTCT
XM_017000091.2:c.338+15_338+18delinsCTCT	XP_016855580.1:n.338+15_338+18delinsCTCT
XM_017000092.2:c.-907+15_-907+18delinsCTCT	XP_016855581.1:n.-907+15_-907+18delinsCTCT
XM_017000093.2:c.338+15_338+18delinsCTCT	XP_016855582.1:n.338+15_338+18delinsCTCT
XM_024452422.1:c.338+15_338+18delinsCTCT	XP_024308190.1:n.338+15_338+18delinsCTCT
XM_024452423.1:c.338+15_338+18delinsCTCT	XP_024308191.1:n.338+15_338+18delinsCTCT
XM_024452435.1:c.114-738_114-735delinsCTCT	XP_024308203.1:n.114-738_114-735delinsCTCT
XM_024452441.1:c.113+1982_113+1985delinsCTCT	XP_024308209.1:n.113+1982_113+1985delinsCTCT
XR_001736928.2:n.540+15_540+18delinsCTCT
XR_001736930.2:n.540+15_540+18delinsCTCT
XR_002958805.1:n.540+15_540+18delinsCTCT
XR_002958806.1:n.540+15_540+18delinsCTCT
XR_002958807.1:n.420+15_420+18delinsCTCT
NM_001253852.3:c.338+15_338+18delinsCTCT MANE Select	NP_001240781.1:n.338+15_338+18delinsCTCT
NM_001253853.3:c.41+15_41+18delinsCTCT	NP_001240782.1:n.41+15_41+18delinsCTCT
NM_001308312.2:c.113+1982_113+1985delinsCTCT	NP_001295241.1:n.113+1982_113+1985delinsCTCT
NM_006594.5:c.338+15_338+18delinsCTCT	NP_006585.2:n.338+15_338+18delinsCTCT