Canonical Allele Identifier: CA1033105867

Gene: REEP1

Linked Data

• dbSNP Id: rs1674143184
• gnomAD v3: 2-86216955-TGCGGATTTCTATG-T
• gnomAD v4: 2-86216955-TGCGGATTTCTATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86216956_86216968del , CM000664.2:g.86216956_86216968del	GRCh38
NC_000002.11:g.86444079_86444091del , CM000664.1:g.86444079_86444091del	GRCh37
NC_000002.10:g.86297590_86297602del	NCBI36
NG_013037.1:g.126116_126128del , LRG_713:g.126116_126128del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.*71_*83del	ENSP00000495610.2:n.*71_*83del
ENST00000686220.1:c.*186_*198del	ENSP00000509904.1:n.*186_*198del
ENST00000687696.1:n.268_280del
ENST00000687927.1:n.1204_1216del
ENST00000688400.1:c.426_438del	ENSP00000510490.1:n.426_438del
ENST00000689156.1:c.*71_*83del	ENSP00000509143.1:n.*71_*83del
ENST00000691093.1:c.*132_*144del	ENSP00000509465.1:n.*132_*144del
ENST00000691703.1:c.*132_*144del	ENSP00000508496.1:n.*132_*144del
ENST00000692664.1:c.*132_*144del	ENSP00000508656.1:n.*132_*144del
ENST00000693329.1:c.*212_*224del	ENSP00000508490.1:n.*212_*224del
ENST00000453231.6:c.*132_*144del	ENSP00000392197.2:n.*132_*144del
ENST00000535845.6:c.*132_*144del	ENSP00000437567.1:n.*132_*144del
ENST00000538924.7:c.*71_*83del MANE Select	ENSP00000438346.3:n.*71_*83del
ENST00000541910.6:c.*71_*83del	ENSP00000442681.1:n.*71_*83del
ENST00000642243.1:c.1034_1046del	ENSP00000494960.1:n.1034_1046del
ENST00000643817.1:c.848_860del	ENSP00000495610.1:n.848_860del
ENST00000644644.1:c.935_947del	ENSP00000494305.1:n.935_947del
ENST00000646181.1:n.611_623del
ENST00000165698.9:c.*132_*144del	ENSP00000165698.5:n.*132_*144del
ENST00000535845.5:c.*132_*144del	ENSP00000437567.1:n.*132_*144del
ENST00000538924.5:c.*132_*144del	ENSP00000438346.1:n.*132_*144del
ENST00000541910.5:c.*71_*83del	ENSP00000442681.1:n.*71_*83del
NM_001164730.1:c.*132_*144del , LRG_713t1:c.*132_*144del	NP_001158202.1:n.*132_*144del
NM_001164731.1:c.*132_*144del	NP_001158203.1:n.*132_*144del
NM_001164732.1:c.*71_*83del	NP_001158204.1:n.*71_*83del
NM_022912.2:c.*132_*144del , LRG_713t2:c.*132_*144del	NP_075063.1:n.*132_*144del
XM_005264502.1:c.*71_*83del	XP_005264559.1:n.*71_*83del
XM_005264504.1:c.*71_*83del	XP_005264561.1:n.*71_*83del
XM_011533043.1:c.*71_*83del	XP_011531345.1:n.*71_*83del
XM_011533044.1:c.*71_*83del	XP_011531346.1:n.*71_*83del
XM_011533045.1:c.*71_*83del	XP_011531347.1:n.*71_*83del
XM_005264502.2:c.*71_*83del	XP_005264559.1:n.*71_*83del
XM_011533045.2:c.*71_*83del	XP_011531347.1:n.*71_*83del
XM_017004725.1:c.*71_*83del	XP_016860214.1:n.*71_*83del
XM_017004726.1:c.*132_*144del	XP_016860215.1:n.*132_*144del
XM_017004727.1:c.*132_*144del	XP_016860216.1:n.*132_*144del
NM_001164730.2:c.*132_*144del	NP_001158202.1:n.*132_*144del
NM_001164731.2:c.*132_*144del	NP_001158203.1:n.*132_*144del
NM_001164732.2:c.*71_*83del	NP_001158204.1:n.*71_*83del
NM_001371279.1:c.*71_*83del MANE Select	NP_001358208.1:n.*71_*83del
NM_001371280.1:c.*71_*83del	NP_001358209.1:n.*71_*83del
NM_022912.3:c.*132_*144del	NP_075063.1:n.*132_*144del