Canonical Allele Identifier: CA658795505

Gene: AP4B1

Linked Data

• ClinVar Variation Id: 539526
• ClinVar RCV Id: RCV000649276
• dbSNP Id: rs1553259191

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113901276_113901277delinsTA , CM000663.2:g.113901276_113901277delinsTA	GRCh38
NC_000001.10:g.114443898_114443899delinsTA , CM000663.1:g.114443898_114443899delinsTA	GRCh37
NC_000001.9:g.114245421_114245422delinsTA	NCBI36
NG_031901.1:g.8843_8844delinsTA
NG_057565.1:g.1658_1659delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.351_352delinsTA	ENSP00000358577.2:p.Val118Ile
ENST00000369567.6:c.114-877_114-876delinsTA	ENSP00000358580.1:n.114-877_114-876delinsTA
ENST00000369571.3:c.576_577delinsTA	ENSP00000358584.3:p.Val193Ile
ENST00000432415.6:c.114-877_114-876delinsTA	ENSP00000393622.2:n.114-877_114-876delinsTA
ENST00000460653.2:c.576_577delinsTA	ENSP00000518881.1:p.Val193Ile
ENST00000484201.6:c.351_352delinsTA	ENSP00000518883.1:p.Val118Ile
ENST00000489092.6:c.*244_*245delinsTA	ENSP00000518884.1:n.*244_*245delinsTA
ENST00000489499.6:c.469+478_469+479delinsTA	ENSP00000518882.1:n.469+478_469+479delinsTA
ENST00000713588.1:c.576_577delinsTA	ENSP00000518880.1:p.Val193Ile
ENST00000713590.1:c.576_577delinsTA	ENSP00000518886.1:p.Val193Ile
ENST00000369569.6:c.576_577delinsTA MANE Select	ENSP00000358582.1:p.Val193Ile
ENST00000256658.8:c.576_577delinsTA	ENSP00000256658.4:p.Val193Ile
ENST00000369564.5:c.351_352delinsTA	ENSP00000358577.1:p.Val118Ile
ENST00000369567.5:c.114-877_114-876delinsTA	ENSP00000358580.1:n.114-877_114-876delinsTA
ENST00000369569.5:c.576_577delinsTA	ENSP00000358582.1:p.Val193Ile
ENST00000369571.2:c.576_577delinsTA	ENSP00000358584.2:p.Val193Ile
ENST00000432415.5:c.114-877_114-876delinsTA	ENSP00000393622.1:n.114-877_114-876delinsTA
ENST00000472122.1:n.472_473delinsTA
ENST00000484201.5:n.542_543delinsTA
ENST00000489092.5:n.575_576delinsTA
ENST00000489499.5:n.585+478_585+479delinsTA
NM_001253852.1:c.576_577delinsTA	NP_001240781.1:p.Val193Ile
NM_001253852.2:c.576_577delinsTA	NP_001240781.1:p.Val193Ile
NM_001253853.1:c.279_280delinsTA	NP_001240782.1:p.Val94Ile
NM_001253853.2:c.279_280delinsTA	NP_001240782.1:p.Val94Ile
NM_001308312.1:c.114-877_114-876delinsTA	NP_001295241.1:n.114-877_114-876delinsTA
NM_006594.3:c.576_577delinsTA	NP_006585.2:p.Val193Ile
NM_006594.4:c.576_577delinsTA	NP_006585.2:p.Val193Ile
XM_005270381.2:c.576_577delinsTA	XP_005270438.1:p.Val193Ile
XM_005270382.3:c.576_577delinsTA	XP_005270439.1:p.Val193Ile
XM_011540523.1:c.351_352delinsTA	XP_011538825.1:p.Val118Ile
XM_011540524.1:c.351_352delinsTA	XP_011538826.1:p.Val118Ile
XM_011540525.1:c.339-877_339-876delinsTA	XP_011538827.1:n.339-877_339-876delinsTA
XM_011540527.1:c.-2+478_-2+479delinsTA	XP_011538829.1:n.-2+478_-2+479delinsTA
XR_246227.1:n.758_759delinsTA
XR_246228.2:n.758_759delinsTA
XM_011540523.3:c.351_352delinsTA	XP_011538825.1:p.Val118Ile
XM_011540525.3:c.339-877_339-876delinsTA	XP_011538827.1:n.339-877_339-876delinsTA
XM_017000089.2:c.576_577delinsTA	XP_016855578.1:p.Val193Ile
XM_017000090.1:c.114-877_114-876delinsTA	XP_016855579.1:n.114-877_114-876delinsTA
XM_017000091.2:c.339-877_339-876delinsTA	XP_016855580.1:n.339-877_339-876delinsTA
XM_017000092.2:c.-669_-668delinsTA	XP_016855581.1:n.-669_-668delinsTA
XM_017000093.2:c.576_577delinsTA	XP_016855582.1:p.Val193Ile
XM_024452422.1:c.339-877_339-876delinsTA	XP_024308190.1:n.339-877_339-876delinsTA
XM_024452423.1:c.576_577delinsTA	XP_024308191.1:p.Val193Ile
XM_024452435.1:c.351_352delinsTA	XP_024308203.1:p.Val118Ile
XM_024452441.1:c.114-877_114-876delinsTA	XP_024308209.1:n.114-877_114-876delinsTA
XR_001736928.2:n.778_779delinsTA
XR_001736930.2:n.778_779delinsTA
XR_002958805.1:n.778_779delinsTA
XR_002958806.1:n.778_779delinsTA
XR_002958807.1:n.658_659delinsTA
NM_001253852.3:c.576_577delinsTA MANE Select	NP_001240781.1:p.Val193Ile
NM_001253853.3:c.279_280delinsTA	NP_001240782.1:p.Val94Ile
NM_001308312.2:c.114-877_114-876delinsTA	NP_001295241.1:n.114-877_114-876delinsTA
NM_006594.5:c.576_577delinsTA	NP_006585.2:p.Val193Ile