Canonical Allele Identifier: CA16617772

Gene: REEP1

Linked Data

• ClinVar Variation Id: 421899
• ClinVar RCV Id: RCV001722403
• dbSNP Id: rs1064795432

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86337544_86337545delinsAA , CM000664.2:g.86337544_86337545delinsAA	GRCh38
NC_000002.11:g.86564667_86564668delinsAA , CM000664.1:g.86564667_86564668delinsAA	GRCh37
NC_000002.10:g.86418178_86418179delinsAA	NCBI36
NG_013037.1:g.5539_5540delinsTT , LRG_713:g.5539_5540delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.-35_-34delinsTT	ENSP00000495610.2:n.-35_-34delinsTT
ENST00000686220.1:c.-43_-42delinsTT	ENSP00000509904.1:n.-43_-42delinsTT
ENST00000689156.1:c.-35_-34delinsTT	ENSP00000509143.1:n.-35_-34delinsTT
ENST00000691093.1:c.-138_-137delinsTT	ENSP00000509465.1:n.-138_-137delinsTT
ENST00000691703.1:c.-35_-34delinsTT	ENSP00000508496.1:n.-35_-34delinsTT
ENST00000692664.1:c.-35_-34delinsTT	ENSP00000508656.1:n.-35_-34delinsTT
ENST00000693329.1:c.-35_-34delinsTT	ENSP00000508490.1:n.-35_-34delinsTT
ENST00000453231.6:c.53+479_53+480delinsTT	ENSP00000392197.2:n.53+479_53+480delinsTT
ENST00000535845.6:c.-43_-42delinsTT	ENSP00000437567.1:n.-43_-42delinsTT
ENST00000538924.7:c.-35_-34delinsTT MANE Select	ENSP00000438346.3:n.-35_-34delinsTT
ENST00000541910.6:c.-35_-34delinsTT	ENSP00000442681.1:n.-35_-34delinsTT
ENST00000165698.9:c.-35_-34delinsTT	ENSP00000165698.5:n.-35_-34delinsTT
ENST00000428491.5:c.-43_-42delinsTT	ENSP00000400607.1:n.-43_-42delinsTT
ENST00000437769.5:c.-35_-34delinsTT	ENSP00000401140.1:n.-35_-34delinsTT
ENST00000453231.5:c.53+479_53+480delinsTT	ENSP00000392197.1:n.53+479_53+480delinsTT
ENST00000535845.5:c.-43_-42delinsTT	ENSP00000437567.1:n.-43_-42delinsTT
ENST00000538924.5:c.53+479_53+480delinsTT	ENSP00000438346.1:n.53+479_53+480delinsTT
ENST00000541910.5:c.-35_-34delinsTT	ENSP00000442681.1:n.-35_-34delinsTT
NM_001164730.1:c.53+479_53+480delinsTT , LRG_713t1:c.53+479_53+480delinsTT	NP_001158202.1:n.53+479_53+480delinsTT
NM_001164731.1:c.-43_-42delinsTT	NP_001158203.1:n.-43_-42delinsTT
NM_001164732.1:c.-35_-34delinsTT	NP_001158204.1:n.-35_-34delinsTT
NM_022912.2:c.-35_-34delinsTT , LRG_713t2:c.-35_-34delinsTT	NP_075063.1:n.-35_-34delinsTT
XM_005264502.1:c.-35_-34delinsTT	XP_005264559.1:n.-35_-34delinsTT
XM_011533043.1:c.53+479_53+480delinsTT	XP_011531345.1:n.53+479_53+480delinsTT
XM_011533046.1:c.53+479_53+480delinsTT	XP_011531348.1:n.53+479_53+480delinsTT
XM_005264502.2:c.-35_-34delinsTT	XP_005264559.1:n.-35_-34delinsTT
NM_001164730.2:c.53+479_53+480delinsTT	NP_001158202.1:n.53+479_53+480delinsTT
NM_001164731.2:c.-43_-42delinsTT	NP_001158203.1:n.-43_-42delinsTT
NM_001164732.2:c.-35_-34delinsTT	NP_001158204.1:n.-35_-34delinsTT
NM_001371279.1:c.-35_-34delinsTT MANE Select	NP_001358208.1:n.-35_-34delinsTT
NM_001371280.1:c.-35_-34delinsTT	NP_001358209.1:n.-35_-34delinsTT
NM_022912.3:c.-35_-34delinsTT	NP_075063.1:n.-35_-34delinsTT