Canonical Allele Identifier: CA534226978

Gene: REEP1

Linked Data

• dbSNP Id: rs1558863149
• gnomAD v2: 2-86444164-ACGTGGTTT-A
• MyVariant Identifiers: chr2:g.86444165_86444172del (hg19) ; chr2:g.86217042_86217049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217044_86217051del , CM000664.2:g.86217044_86217051del	GRCh38
NC_000002.11:g.86444167_86444174del , CM000664.1:g.86444167_86444174del	GRCh37
NC_000002.10:g.86297678_86297685del	NCBI36
NG_013037.1:g.126035_126042del , LRG_713:g.126035_126042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.809_816del	ENSP00000495610.2:p.Glu270ValfsTer?
ENST00000686220.1:c.*105_*112del	ENSP00000509904.1:n.*105_*112del
ENST00000687696.1:n.187_194del
ENST00000687927.1:n.1123_1130del
ENST00000688400.1:c.345_352del	ENSP00000510490.1:n.345_352del
ENST00000689156.1:c.479_486del	ENSP00000509143.1:p.Glu160ValfsTer?
ENST00000691093.1:c.*51_*58del	ENSP00000509465.1:n.*51_*58del
ENST00000691703.1:c.*51_*58del	ENSP00000508496.1:n.*51_*58del
ENST00000692664.1:c.*51_*58del	ENSP00000508656.1:n.*51_*58del
ENST00000693329.1:c.*131_*138del	ENSP00000508490.1:n.*131_*138del
ENST00000453231.6:c.*51_*58del	ENSP00000392197.2:n.*51_*58del
ENST00000535845.6:c.*51_*58del	ENSP00000437567.1:n.*51_*58del
ENST00000538924.7:c.845_852del MANE Select	ENSP00000438346.3:p.Glu282ValfsTer?
ENST00000541910.6:c.422_429del	ENSP00000442681.1:p.Glu141ValfsTer?
ENST00000642243.1:c.953_960del	ENSP00000494960.1:p.Glu318ValfsTer?
ENST00000643817.1:c.767_774del	ENSP00000495610.1:p.Glu256ValfsTer?
ENST00000644644.1:c.854_861del	ENSP00000494305.1:p.Glu285ValfsTer?
ENST00000646181.1:n.530_537del
ENST00000165698.9:c.*51_*58del	ENSP00000165698.5:n.*51_*58del
ENST00000535845.5:c.*51_*58del	ENSP00000437567.1:n.*51_*58del
ENST00000538924.5:c.*51_*58del	ENSP00000438346.1:n.*51_*58del
ENST00000541910.5:c.422_429del	ENSP00000442681.1:p.Glu141ValfsTer?
NM_001164730.1:c.*51_*58del , LRG_713t1:c.*51_*58del	NP_001158202.1:n.*51_*58del
NM_001164731.1:c.*51_*58del	NP_001158203.1:n.*51_*58del
NM_001164732.1:c.422_429del	NP_001158204.1:p.Glu141ValfsTer?
NM_022912.2:c.*51_*58del , LRG_713t2:c.*51_*58del	NP_075063.1:n.*51_*58del
XM_005264502.1:c.845_852del	XP_005264559.1:p.Glu282ValfsTer?
XM_005264504.1:c.731_738del	XP_005264561.1:p.Glu244ValfsTer?
XM_011533043.1:c.830_837del	XP_011531345.1:p.Glu277ValfsTer?
XM_011533044.1:c.827_834del	XP_011531346.1:p.Glu276ValfsTer?
XM_011533045.1:c.821_828del	XP_011531347.1:p.Glu274ValfsTer?
XM_011533046.1:c.*51_*58del	XP_011531348.1:n.*51_*58del
XM_005264502.2:c.845_852del	XP_005264559.1:p.Glu282ValfsTer?
XM_011533045.2:c.821_828del	XP_011531347.1:p.Glu274ValfsTer?
XM_017004725.1:c.830_837del	XP_016860214.1:p.Glu277ValfsTer?
XM_017004726.1:c.*51_*58del	XP_016860215.1:n.*51_*58del
XM_017004727.1:c.*51_*58del	XP_016860216.1:n.*51_*58del
NM_001164730.2:c.*51_*58del	NP_001158202.1:n.*51_*58del
NM_001164731.2:c.*51_*58del	NP_001158203.1:n.*51_*58del
NM_001164732.2:c.422_429del	NP_001158204.1:p.Glu141ValfsTer?
NM_001371279.1:c.845_852del MANE Select	NP_001358208.1:p.Glu282ValfsTer?
NM_001371280.1:c.479_486del	NP_001358209.1:p.Glu160ValfsTer?
NM_022912.3:c.*51_*58del	NP_075063.1:n.*51_*58del