Canonical Allele Identifier: CA1033105915

Gene: REEP1

Linked Data

• dbSNP Id: rs1674149303
• gnomAD v3: 2-86217050-CG-C
• gnomAD v4: 2-86217050-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217052del , CM000664.2:g.86217052del	GRCh38
NC_000002.11:g.86444175del , CM000664.1:g.86444175del	GRCh37
NC_000002.10:g.86297686del	NCBI36
NG_013037.1:g.126033del , LRG_713:g.126033del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.807del	ENSP00000495610.2:p.Glu270LysfsTer5
ENST00000686220.1:c.*103del	ENSP00000509904.1:n.*103del
ENST00000687696.1:n.185del
ENST00000687927.1:n.1121del
ENST00000688400.1:c.343del	ENSP00000510490.1:n.343del
ENST00000689156.1:c.477del	ENSP00000509143.1:p.Glu160LysfsTer5
ENST00000691093.1:c.*49del	ENSP00000509465.1:n.*49del
ENST00000691703.1:c.*49del	ENSP00000508496.1:n.*49del
ENST00000692664.1:c.*49del	ENSP00000508656.1:n.*49del
ENST00000693329.1:c.*129del	ENSP00000508490.1:n.*129del
ENST00000453231.6:c.*49del	ENSP00000392197.2:n.*49del
ENST00000535845.6:c.*49del	ENSP00000437567.1:n.*49del
ENST00000538924.7:c.843del MANE Select	ENSP00000438346.3:p.Glu282LysfsTer5
ENST00000541910.6:c.420del	ENSP00000442681.1:p.Glu141LysfsTer5
ENST00000642243.1:c.951del	ENSP00000494960.1:p.Glu318LysfsTer5
ENST00000643817.1:c.765del	ENSP00000495610.1:p.Glu256LysfsTer5
ENST00000644644.1:c.852del	ENSP00000494305.1:p.Glu285LysfsTer5
ENST00000646181.1:n.528del
ENST00000165698.9:c.*49del	ENSP00000165698.5:n.*49del
ENST00000535845.5:c.*49del	ENSP00000437567.1:n.*49del
ENST00000538924.5:c.*49del	ENSP00000438346.1:n.*49del
ENST00000541910.5:c.420del	ENSP00000442681.1:p.Glu141LysfsTer5
NM_001164730.1:c.*49del , LRG_713t1:c.*49del	NP_001158202.1:n.*49del
NM_001164731.1:c.*49del	NP_001158203.1:n.*49del
NM_001164732.1:c.420del	NP_001158204.1:p.Glu141LysfsTer5
NM_022912.2:c.*49del , LRG_713t2:c.*49del	NP_075063.1:n.*49del
XM_005264502.1:c.843del	XP_005264559.1:p.Glu282LysfsTer5
XM_005264504.1:c.729del	XP_005264561.1:p.Glu244LysfsTer5
XM_011533043.1:c.828del	XP_011531345.1:p.Glu277LysfsTer5
XM_011533044.1:c.825del	XP_011531346.1:p.Glu276LysfsTer5
XM_011533045.1:c.819del	XP_011531347.1:p.Glu274LysfsTer5
XM_011533046.1:c.*49del	XP_011531348.1:n.*49del
XM_005264502.2:c.843del	XP_005264559.1:p.Glu282LysfsTer5
XM_011533045.2:c.819del	XP_011531347.1:p.Glu274LysfsTer5
XM_017004725.1:c.828del	XP_016860214.1:p.Glu277LysfsTer5
XM_017004726.1:c.*49del	XP_016860215.1:n.*49del
XM_017004727.1:c.*49del	XP_016860216.1:n.*49del
NM_001164730.2:c.*49del	NP_001158202.1:n.*49del
NM_001164731.2:c.*49del	NP_001158203.1:n.*49del
NM_001164732.2:c.420del	NP_001158204.1:p.Glu141LysfsTer5
NM_001371279.1:c.843del MANE Select	NP_001358208.1:p.Glu282LysfsTer5
NM_001371280.1:c.477del	NP_001358209.1:p.Glu160LysfsTer5
NM_022912.3:c.*49del	NP_075063.1:n.*49del