Canonical Allele Identifier: CA2573130932

Gene: AP4B1

Linked Data

• ClinVar Variation Id: 1344778
• ClinVar RCV Id: RCV001849779
• dbSNP Id: rs2101043631

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902665del , CM000663.2:g.113902665del	GRCh38
NC_000001.10:g.114445287del , CM000663.1:g.114445287del	GRCh37
NC_000001.9:g.114246810del	NCBI36
NG_031901.1:g.7455del
NG_057565.1:g.3047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-780del	ENSP00000358577.2:n.114-780del
ENST00000369567.6:c.113+1940del	ENSP00000358580.1:n.113+1940del
ENST00000369571.3:c.311del	ENSP00000358584.3:p.Leu104ArgfsTer?
ENST00000432415.6:c.113+1940del	ENSP00000393622.2:n.113+1940del
ENST00000460653.2:c.311del	ENSP00000518881.1:p.Leu104ArgfsTer?
ENST00000484201.6:c.114-780del	ENSP00000518883.1:n.114-780del
ENST00000489092.6:c.183del	ENSP00000518884.1:p.Gly62AlafsTer?
ENST00000489499.6:c.311del	ENSP00000518882.1:p.Leu104ArgfsTer?
ENST00000713588.1:c.311del	ENSP00000518880.1:p.Leu104ArgfsTer?
ENST00000713590.1:c.311del	ENSP00000518886.1:p.Leu104ArgfsTer?
ENST00000369569.6:c.311del MANE Select	ENSP00000358582.1:p.Leu104ArgfsTer?
ENST00000256658.8:c.311del	ENSP00000256658.4:p.Leu104ArgfsTer?
ENST00000369564.5:c.114-780del	ENSP00000358577.1:n.114-780del
ENST00000369567.5:c.113+1940del	ENSP00000358580.1:n.113+1940del
ENST00000369569.5:c.311del	ENSP00000358582.1:p.Leu104ArgfsTer?
ENST00000369571.2:c.311del	ENSP00000358584.2:p.Leu104ArgfsTer?
ENST00000432415.5:c.113+1940del	ENSP00000393622.1:n.113+1940del
ENST00000484201.5:n.305-780del
ENST00000489092.5:n.310del
ENST00000489499.5:n.427del
NM_001253852.1:c.311del	NP_001240781.1:p.Leu104ArgfsTer?
NM_001253852.2:c.311del	NP_001240781.1:p.Leu104ArgfsTer?
NM_001253853.1:c.14del	NP_001240782.1:p.Leu5ArgfsTer?
NM_001253853.2:c.14del	NP_001240782.1:p.Leu5ArgfsTer?
NM_001308312.1:c.113+1940del	NP_001295241.1:n.113+1940del
NM_006594.3:c.311del	NP_006585.2:p.Leu104ArgfsTer?
NM_006594.4:c.311del	NP_006585.2:p.Leu104ArgfsTer?
XM_005270381.2:c.311del	XP_005270438.1:p.Leu104ArgfsTer?
XM_005270382.3:c.311del	XP_005270439.1:p.Leu104ArgfsTer?
XM_011540523.1:c.114-780del	XP_011538825.1:n.114-780del
XM_011540524.1:c.114-780del	XP_011538826.1:n.114-780del
XM_011540525.1:c.311del	XP_011538827.1:p.Leu104ArgfsTer23
XM_011540527.1:c.-160del	XP_011538829.1:n.-160del
XR_246227.1:n.493del
XR_246228.2:n.493del
XM_011540523.3:c.114-780del	XP_011538825.1:n.114-780del
XM_011540525.3:c.311del	XP_011538827.1:p.Leu104ArgfsTer23
XM_017000089.2:c.311del	XP_016855578.1:p.Leu104ArgfsTer?
XM_017000090.1:c.113+1940del	XP_016855579.1:n.113+1940del
XM_017000091.2:c.311del	XP_016855580.1:p.Leu104ArgfsTer23
XM_017000092.2:c.-934del	XP_016855581.1:n.-934del
XM_017000093.2:c.311del	XP_016855582.1:p.Leu104ArgfsTer?
XM_024452422.1:c.311del	XP_024308190.1:p.Leu104ArgfsTer23
XM_024452423.1:c.311del	XP_024308191.1:p.Leu104ArgfsTer?
XM_024452435.1:c.114-780del	XP_024308203.1:n.114-780del
XM_024452441.1:c.113+1940del	XP_024308209.1:n.113+1940del
XR_001736928.2:n.513del
XR_001736930.2:n.513del
XR_002958805.1:n.513del
XR_002958806.1:n.513del
XR_002958807.1:n.393del
NM_001253852.3:c.311del MANE Select	NP_001240781.1:p.Leu104ArgfsTer?
NM_001253853.3:c.14del	NP_001240782.1:p.Leu5ArgfsTer?
NM_001308312.2:c.113+1940del	NP_001295241.1:n.113+1940del
NM_006594.5:c.311del	NP_006585.2:p.Leu104ArgfsTer?