Canonical Allele Identifier: CA2659929639

Gene: REEP1

Linked Data

• gnomAD v4: 2-86217064-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217065del , CM000664.2:g.86217065del	GRCh38
NC_000002.11:g.86444188del , CM000664.1:g.86444188del	GRCh37
NC_000002.10:g.86297699del	NCBI36
NG_013037.1:g.126019del , LRG_713:g.126019del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.793del	ENSP00000495610.2:p.Ser265HisfsTer10
ENST00000686220.1:c.*89del	ENSP00000509904.1:n.*89del
ENST00000687696.1:n.171del
ENST00000687927.1:n.1107del
ENST00000688400.1:c.329del	ENSP00000510490.1:n.329del
ENST00000689156.1:c.463del	ENSP00000509143.1:p.Ser155HisfsTer10
ENST00000691093.1:c.*35del	ENSP00000509465.1:n.*35del
ENST00000691703.1:c.*35del	ENSP00000508496.1:n.*35del
ENST00000692664.1:c.*35del	ENSP00000508656.1:n.*35del
ENST00000693329.1:c.*115del	ENSP00000508490.1:n.*115del
ENST00000453231.6:c.*35del	ENSP00000392197.2:n.*35del
ENST00000535845.6:c.*35del	ENSP00000437567.1:n.*35del
ENST00000538924.7:c.829del MANE Select	ENSP00000438346.3:p.Ser277HisfsTer10
ENST00000541910.6:c.406del	ENSP00000442681.1:p.Ser136HisfsTer10
ENST00000642243.1:c.937del	ENSP00000494960.1:p.Ser313HisfsTer10
ENST00000643817.1:c.751del	ENSP00000495610.1:p.Ser251HisfsTer10
ENST00000644644.1:c.838del	ENSP00000494305.1:p.Ser280HisfsTer10
ENST00000646181.1:n.514del
ENST00000165698.9:c.*35del	ENSP00000165698.5:n.*35del
ENST00000535845.5:c.*35del	ENSP00000437567.1:n.*35del
ENST00000538924.5:c.*35del	ENSP00000438346.1:n.*35del
ENST00000541910.5:c.406del	ENSP00000442681.1:p.Ser136HisfsTer10
NM_001164730.1:c.*35del , LRG_713t1:c.*35del	NP_001158202.1:n.*35del
NM_001164731.1:c.*35del	NP_001158203.1:n.*35del
NM_001164732.1:c.406del	NP_001158204.1:p.Ser136HisfsTer10
NM_022912.2:c.*35del , LRG_713t2:c.*35del	NP_075063.1:n.*35del
XM_005264502.1:c.829del	XP_005264559.1:p.Ser277HisfsTer10
XM_005264504.1:c.715del	XP_005264561.1:p.Ser239HisfsTer10
XM_011533043.1:c.814del	XP_011531345.1:p.Ser272HisfsTer10
XM_011533044.1:c.811del	XP_011531346.1:p.Ser271HisfsTer10
XM_011533045.1:c.805del	XP_011531347.1:p.Ser269HisfsTer10
XM_011533046.1:c.*35del	XP_011531348.1:n.*35del
XM_005264502.2:c.829del	XP_005264559.1:p.Ser277HisfsTer10
XM_011533045.2:c.805del	XP_011531347.1:p.Ser269HisfsTer10
XM_017004725.1:c.814del	XP_016860214.1:p.Ser272HisfsTer10
XM_017004726.1:c.*35del	XP_016860215.1:n.*35del
XM_017004727.1:c.*35del	XP_016860216.1:n.*35del
NM_001164730.2:c.*35del	NP_001158202.1:n.*35del
NM_001164731.2:c.*35del	NP_001158203.1:n.*35del
NM_001164732.2:c.406del	NP_001158204.1:p.Ser136HisfsTer10
NM_001371279.1:c.829del MANE Select	NP_001358208.1:p.Ser277HisfsTer10
NM_001371280.1:c.463del	NP_001358209.1:p.Ser155HisfsTer10
NM_022912.3:c.*35del	NP_075063.1:n.*35del