Canonical Allele Identifier: CA1267127203
Gene: REEP1 HGNC NCBI

Linked Data

dbSNP Id: rs1674158621

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86217164_86217165del , CM000664.2:g.86217164_86217165del GRCh38
NC_000002.11:g.86444287_86444288del , CM000664.1:g.86444287_86444288del GRCh37
NC_000002.10:g.86297798_86297799del NCBI36
NG_013037.1:g.125921_125922del , LRG_713:g.125921_125922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000643817.2:c.748-53_748-52del ENSP00000495610.2:n.748-53_748-52del
ENST00000686220.1:c.*44-53_*44-52del ENSP00000509904.1:n.*44-53_*44-52del
ENST00000687696.1:n.126-53_126-52del
ENST00000687927.1:n.1062-53_1062-52del
ENST00000688400.1:c.284-53_284-52del ENSP00000510490.1:n.284-53_284-52del
ENST00000689156.1:c.418-53_418-52del ENSP00000509143.1:n.418-53_418-52del
ENST00000691093.1:c.416-53_416-52del ENSP00000509465.1:n.416-53_416-52del
ENST00000691703.1:c.632-53_632-52del ENSP00000508496.1:n.632-53_632-52del
ENST00000692664.1:c.446-53_446-52del ENSP00000508656.1:n.446-53_446-52del
ENST00000693329.1:c.*70-53_*70-52del ENSP00000508490.1:n.*70-53_*70-52del
ENST00000453231.6:c.617-53_617-52del ENSP00000392197.2:n.617-53_617-52del
ENST00000535845.6:c.515-53_515-52del ENSP00000437567.1:n.515-53_515-52del
ENST00000538924.7:c.784-53_784-52del MANE Select ENSP00000438346.3:n.784-53_784-52del
ENST00000541910.6:c.361-53_361-52del ENSP00000442681.1:n.361-53_361-52del
ENST00000642243.1:c.892-53_892-52del ENSP00000494960.1:n.892-53_892-52del
ENST00000643817.1:c.706-53_706-52del ENSP00000495610.1:n.706-53_706-52del
ENST00000644644.1:c.793-53_793-52del ENSP00000494305.1:n.793-53_793-52del
ENST00000646181.1:n.469-53_469-52del
ENST00000165698.9:c.596-53_596-52del ENSP00000165698.5:n.596-53_596-52del
ENST00000535845.5:c.515-53_515-52del ENSP00000437567.1:n.515-53_515-52del
ENST00000538924.5:c.617-53_617-52del ENSP00000438346.1:n.617-53_617-52del
ENST00000541910.5:c.361-53_361-52del ENSP00000442681.1:n.361-53_361-52del
NM_001164730.1:c.617-53_617-52del , LRG_713t1:c.617-53_617-52del NP_001158202.1:n.617-53_617-52del
NM_001164731.1:c.515-53_515-52del NP_001158203.1:n.515-53_515-52del
NM_001164732.1:c.361-53_361-52del NP_001158204.1:n.361-53_361-52del
NM_022912.2:c.596-53_596-52del , LRG_713t2:c.596-53_596-52del NP_075063.1:n.596-53_596-52del
XM_005264502.1:c.784-53_784-52del XP_005264559.1:n.784-53_784-52del
XM_005264504.1:c.670-53_670-52del XP_005264561.1:n.670-53_670-52del
XM_011533043.1:c.769-53_769-52del XP_011531345.1:n.769-53_769-52del
XM_011533044.1:c.766-53_766-52del XP_011531346.1:n.766-53_766-52del
XM_011533045.1:c.760-53_760-52del XP_011531347.1:n.760-53_760-52del
XM_011533046.1:c.653-53_653-52del XP_011531348.1:n.653-53_653-52del
XM_005264502.2:c.784-53_784-52del XP_005264559.1:n.784-53_784-52del
XM_011533045.2:c.760-53_760-52del XP_011531347.1:n.760-53_760-52del
XM_017004725.1:c.769-53_769-52del XP_016860214.1:n.769-53_769-52del
XM_017004726.1:c.653-53_653-52del XP_016860215.1:n.653-53_653-52del
XM_017004727.1:c.617-53_617-52del XP_016860216.1:n.617-53_617-52del
NM_001164730.2:c.617-53_617-52del NP_001158202.1:n.617-53_617-52del
NM_001164731.2:c.515-53_515-52del NP_001158203.1:n.515-53_515-52del
NM_001164732.2:c.361-53_361-52del NP_001158204.1:n.361-53_361-52del
NM_001371279.1:c.784-53_784-52del MANE Select NP_001358208.1:n.784-53_784-52del
NM_001371280.1:c.418-53_418-52del NP_001358209.1:n.418-53_418-52del
NM_022912.3:c.596-53_596-52del NP_075063.1:n.596-53_596-52del