Canonical Allele Identifier: CA1290527839
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135761_135135762delinsAT , CM000664.2:g.135135761_135135762delinsAT GRCh38
NC_000002.11:g.135893331_135893332delinsAT , CM000664.1:g.135893331_135893332delinsAT GRCh37
NC_000002.10:g.135609801_135609802delinsAT NCBI36
NG_016972.1:g.88497_88498delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1752_1753delinsAT ENSP00000444306.2:p.Glu584=
ENST00000685967.1:c.*1209_*1210delinsAT ENSP00000508423.1:n.*1209_*1210delinsAT
ENST00000686114.1:n.2098_2099delinsAT
ENST00000687199.1:c.*1820_*1821delinsAT ENSP00000510319.1:n.*1820_*1821delinsAT
ENST00000688088.1:n.1771_1772delinsAT
ENST00000688182.1:c.151-31932_151-31931delinsAT ENSP00000509324.1:n.151-31932_151-31931delinsAT
ENST00000689880.1:n.1771_1772delinsAT
ENST00000690208.1:c.*1430_*1431delinsAT ENSP00000510746.1:n.*1430_*1431delinsAT
ENST00000690785.1:n.1771_1772delinsAT
ENST00000691339.1:c.*1375_*1376delinsAT ENSP00000509953.1:n.*1375_*1376delinsAT
ENST00000691478.1:c.*1851_*1852delinsAT ENSP00000509081.1:n.*1851_*1852delinsAT
ENST00000693554.1:c.1752_1753delinsAT ENSP00000509030.1:p.Glu584=
ENST00000264158.13:c.1752_1753delinsAT MANE Select ENSP00000264158.8:p.Glu584=
ENST00000264158.12:c.1752_1753delinsAT ENSP00000264158.7:p.Glu584=
ENST00000442034.5:c.1752_1753delinsAT ENSP00000411418.1:p.Glu584=
ENST00000487003.5:n.1821_1822delinsAT
ENST00000539493.2:c.1620_1621delinsAT ENSP00000444306.1:p.Glu540=
NM_001172435.1:c.1752_1753delinsAT NP_001165906.1:p.Glu584=
NM_012233.2:c.1752_1753delinsAT NP_036365.1:p.Glu584=
XM_011510822.1:c.1752_1753delinsAT XP_011509124.1:p.Glu584=
XM_011510823.1:c.1752_1753delinsAT XP_011509125.1:p.Glu584=
XM_011510824.1:c.1752_1753delinsAT XP_011509126.1:p.Glu584=
XM_011510825.1:c.1752_1753delinsAT XP_011509127.1:p.Glu584=
XM_011510823.3:c.1752_1753delinsAT XP_011509125.1:p.Glu584=
XM_011510825.3:c.1752_1753delinsAT XP_011509127.1:p.Glu584=
XR_001738674.2:n.1779_1780delinsAT
NM_001172435.2:c.1752_1753delinsAT NP_001165906.1:p.Glu584=
NM_012233.3:c.1752_1753delinsAT MANE Select NP_036365.1:p.Glu584=