Canonical Allele Identifier: CA2659929637

Gene: REEP1

Linked Data

• gnomAD v4: 2-86217054-GGCCGAGGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217056_86217064del , CM000664.2:g.86217056_86217064del	GRCh38
NC_000002.11:g.86444179_86444187del , CM000664.1:g.86444179_86444187del	GRCh37
NC_000002.10:g.86297690_86297698del	NCBI36
NG_013037.1:g.126021_126029del , LRG_713:g.126021_126029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.795_803del	ENSP00000495610.2:p.Ser266_Ala268del
ENST00000686220.1:c.*91_*99del	ENSP00000509904.1:n.*91_*99del
ENST00000687696.1:n.173_181del
ENST00000687927.1:n.1109_1117del
ENST00000688400.1:c.331_339del	ENSP00000510490.1:n.331_339del
ENST00000689156.1:c.465_473del	ENSP00000509143.1:p.Ser156_Ala158del
ENST00000691093.1:c.*37_*45del	ENSP00000509465.1:n.*37_*45del
ENST00000691703.1:c.*37_*45del	ENSP00000508496.1:n.*37_*45del
ENST00000692664.1:c.*37_*45del	ENSP00000508656.1:n.*37_*45del
ENST00000693329.1:c.*117_*125del	ENSP00000508490.1:n.*117_*125del
ENST00000453231.6:c.*37_*45del	ENSP00000392197.2:n.*37_*45del
ENST00000535845.6:c.*37_*45del	ENSP00000437567.1:n.*37_*45del
ENST00000538924.7:c.831_839del MANE Select	ENSP00000438346.3:p.Ser278_Ala280del
ENST00000541910.6:c.408_416del	ENSP00000442681.1:p.Ser137_Ala139del
ENST00000642243.1:c.939_947del	ENSP00000494960.1:p.Ser314_Ala316del
ENST00000643817.1:c.753_761del	ENSP00000495610.1:p.Ser252_Ala254del
ENST00000644644.1:c.840_848del	ENSP00000494305.1:p.Ser281_Ala283del
ENST00000646181.1:n.516_524del
ENST00000165698.9:c.*37_*45del	ENSP00000165698.5:n.*37_*45del
ENST00000535845.5:c.*37_*45del	ENSP00000437567.1:n.*37_*45del
ENST00000538924.5:c.*37_*45del	ENSP00000438346.1:n.*37_*45del
ENST00000541910.5:c.408_416del	ENSP00000442681.1:p.Ser137_Ala139del
NM_001164730.1:c.*37_*45del , LRG_713t1:c.*37_*45del	NP_001158202.1:n.*37_*45del
NM_001164731.1:c.*37_*45del	NP_001158203.1:n.*37_*45del
NM_001164732.1:c.408_416del	NP_001158204.1:p.Ser137_Ala139del
NM_022912.2:c.*37_*45del , LRG_713t2:c.*37_*45del	NP_075063.1:n.*37_*45del
XM_005264502.1:c.831_839del	XP_005264559.1:p.Ser278_Ala280del
XM_005264504.1:c.717_725del	XP_005264561.1:p.Ser240_Ala242del
XM_011533043.1:c.816_824del	XP_011531345.1:p.Ser273_Ala275del
XM_011533044.1:c.813_821del	XP_011531346.1:p.Ser272_Ala274del
XM_011533045.1:c.807_815del	XP_011531347.1:p.Ser270_Ala272del
XM_011533046.1:c.*37_*45del	XP_011531348.1:n.*37_*45del
XM_005264502.2:c.831_839del	XP_005264559.1:p.Ser278_Ala280del
XM_011533045.2:c.807_815del	XP_011531347.1:p.Ser270_Ala272del
XM_017004725.1:c.816_824del	XP_016860214.1:p.Ser273_Ala275del
XM_017004726.1:c.*37_*45del	XP_016860215.1:n.*37_*45del
XM_017004727.1:c.*37_*45del	XP_016860216.1:n.*37_*45del
NM_001164730.2:c.*37_*45del	NP_001158202.1:n.*37_*45del
NM_001164731.2:c.*37_*45del	NP_001158203.1:n.*37_*45del
NM_001164732.2:c.408_416del	NP_001158204.1:p.Ser137_Ala139del
NM_001371279.1:c.831_839del MANE Select	NP_001358208.1:p.Ser278_Ala280del
NM_001371280.1:c.465_473del	NP_001358209.1:p.Ser156_Ala158del
NM_022912.3:c.*37_*45del	NP_075063.1:n.*37_*45del