Canonical Allele Identifier: CA536547182

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs1558793679
• gnomAD v2: 2-135893322-CGAA-C
• gnomAD v4: 2-135135752-CGAA-C
• MyVariant Identifiers: chr2:g.135893323_135893325del (hg19) ; chr2:g.135135753_135135755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135759_135135761del , CM000664.2:g.135135759_135135761del	GRCh38
NC_000002.11:g.135893329_135893331del , CM000664.1:g.135893329_135893331del	GRCh37
NC_000002.10:g.135609799_135609801del	NCBI36
NG_016972.1:g.88495_88497del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539493.3:c.1750_1752del	ENSP00000444306.2:p.Glu584del
ENST00000685967.1:c.*1207_*1209del	ENSP00000508423.1:n.*1207_*1209del
ENST00000686114.1:n.2096_2098del
ENST00000687199.1:c.*1818_*1820del	ENSP00000510319.1:n.*1818_*1820del
ENST00000688088.1:n.1769_1771del
ENST00000688182.1:c.151-31934_151-31932del	ENSP00000509324.1:n.151-31934_151-31932de...
ENST00000689880.1:n.1769_1771del
ENST00000690208.1:c.*1428_*1430del	ENSP00000510746.1:n.*1428_*1430del
ENST00000690785.1:n.1769_1771del
ENST00000691339.1:c.*1373_*1375del	ENSP00000509953.1:n.*1373_*1375del
ENST00000691478.1:c.*1849_*1851del	ENSP00000509081.1:n.*1849_*1851del
ENST00000693554.1:c.1750_1752del	ENSP00000509030.1:p.Glu584del
ENST00000264158.13:c.1750_1752del MANE Select	ENSP00000264158.8:p.Glu584del
ENST00000264158.12:c.1750_1752del	ENSP00000264158.7:p.Glu584del
ENST00000442034.5:c.1750_1752del	ENSP00000411418.1:p.Glu584del
ENST00000487003.5:n.1819_1821del
ENST00000539493.2:c.1618_1620del	ENSP00000444306.1:p.Glu540del
NM_001172435.1:c.1750_1752del	NP_001165906.1:p.Glu584del
NM_012233.2:c.1750_1752del	NP_036365.1:p.Glu584del
XM_011510822.1:c.1750_1752del	XP_011509124.1:p.Glu584del
XM_011510823.1:c.1750_1752del	XP_011509125.1:p.Glu584del
XM_011510824.1:c.1750_1752del	XP_011509126.1:p.Glu584del
XM_011510825.1:c.1750_1752del	XP_011509127.1:p.Glu584del
XM_011510823.3:c.1750_1752del	XP_011509125.1:p.Glu584del
XM_011510825.3:c.1750_1752del	XP_011509127.1:p.Glu584del
XR_001738674.2:n.1777_1779del
NM_001172435.2:c.1750_1752del	NP_001165906.1:p.Glu584del
NM_012233.3:c.1750_1752del MANE Select	NP_036365.1:p.Glu584del