Canonical Allele Identifier: CA1290527760
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135604_135135605delinsAG , CM000664.2:g.135135604_135135605delinsAG GRCh38
NC_000002.11:g.135893174_135893175delinsAG , CM000664.1:g.135893174_135893175delinsAG GRCh37
NC_000002.10:g.135609644_135609645delinsAG NCBI36
NG_016972.1:g.88340_88341delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1595_1596delinsAG ENSP00000444306.2:p.Glu532=
ENST00000685967.1:c.*1052_*1053delinsAG ENSP00000508423.1:n.*1052_*1053delinsAG
ENST00000686114.1:n.1941_1942delinsAG
ENST00000687199.1:c.*1663_*1664delinsAG ENSP00000510319.1:n.*1663_*1664delinsAG
ENST00000688088.1:n.1614_1615delinsAG
ENST00000688182.1:c.151-32089_151-32088delinsAG ENSP00000509324.1:n.151-32089_151-32088delinsAG
ENST00000689880.1:n.1614_1615delinsAG
ENST00000690208.1:c.*1273_*1274delinsAG ENSP00000510746.1:n.*1273_*1274delinsAG
ENST00000690785.1:n.1614_1615delinsAG
ENST00000691339.1:c.*1218_*1219delinsAG ENSP00000509953.1:n.*1218_*1219delinsAG
ENST00000691478.1:c.*1694_*1695delinsAG ENSP00000509081.1:n.*1694_*1695delinsAG
ENST00000693554.1:c.1595_1596delinsAG ENSP00000509030.1:p.Glu532=
ENST00000264158.13:c.1595_1596delinsAG MANE Select ENSP00000264158.8:p.Glu532=
ENST00000264158.12:c.1595_1596delinsAG ENSP00000264158.7:p.Glu532=
ENST00000442034.5:c.1595_1596delinsAG ENSP00000411418.1:p.Glu532=
ENST00000487003.5:n.1664_1665delinsAG
ENST00000539493.2:c.1463_1464delinsAG ENSP00000444306.1:p.Glu488=
NM_001172435.1:c.1595_1596delinsAG NP_001165906.1:p.Glu532=
NM_012233.2:c.1595_1596delinsAG NP_036365.1:p.Glu532=
XM_011510822.1:c.1595_1596delinsAG XP_011509124.1:p.Glu532=
XM_011510823.1:c.1595_1596delinsAG XP_011509125.1:p.Glu532=
XM_011510824.1:c.1595_1596delinsAG XP_011509126.1:p.Glu532=
XM_011510825.1:c.1595_1596delinsAG XP_011509127.1:p.Glu532=
XM_011510823.3:c.1595_1596delinsAG XP_011509125.1:p.Glu532=
XM_011510825.3:c.1595_1596delinsAG XP_011509127.1:p.Glu532=
XR_001738674.2:n.1622_1623delinsAG
NM_001172435.2:c.1595_1596delinsAG NP_001165906.1:p.Glu532=
NM_012233.3:c.1595_1596delinsAG MANE Select NP_036365.1:p.Glu532=