Canonical Allele Identifier: CA1290527787
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135664_135135667delinsCAGG , CM000664.2:g.135135664_135135667delinsCAGG GRCh38
NC_000002.11:g.135893234_135893237delinsCAGG , CM000664.1:g.135893234_135893237delinsCAGG GRCh37
NC_000002.10:g.135609704_135609707delinsCAGG NCBI36
NG_016972.1:g.88400_88403delinsCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1655_1658delinsCAGG ENSP00000444306.2:p.Ala552=
ENST00000685967.1:c.*1112_*1115delinsCAGG ENSP00000508423.1:n.*1112_*1115delinsCAGG
ENST00000686114.1:n.2001_2004delinsCAGG
ENST00000687199.1:c.*1723_*1726delinsCAGG ENSP00000510319.1:n.*1723_*1726delinsCAGG
ENST00000688088.1:n.1674_1677delinsCAGG
ENST00000688182.1:c.151-32029_151-32026delinsCAGG ENSP00000509324.1:n.151-32029_151-32026delinsCAGG
ENST00000689880.1:n.1674_1677delinsCAGG
ENST00000690208.1:c.*1333_*1336delinsCAGG ENSP00000510746.1:n.*1333_*1336delinsCAGG
ENST00000690785.1:n.1674_1677delinsCAGG
ENST00000691339.1:c.*1278_*1281delinsCAGG ENSP00000509953.1:n.*1278_*1281delinsCAGG
ENST00000691478.1:c.*1754_*1757delinsCAGG ENSP00000509081.1:n.*1754_*1757delinsCAGG
ENST00000693554.1:c.1655_1658delinsCAGG ENSP00000509030.1:p.Ala552=
ENST00000264158.13:c.1655_1658delinsCAGG MANE Select ENSP00000264158.8:p.Ala552=
ENST00000264158.12:c.1655_1658delinsCAGG ENSP00000264158.7:p.Ala552=
ENST00000442034.5:c.1655_1658delinsCAGG ENSP00000411418.1:p.Ala552=
ENST00000487003.5:n.1724_1727delinsCAGG
ENST00000539493.2:c.1523_1526delinsCAGG ENSP00000444306.1:p.Ala508=
NM_001172435.1:c.1655_1658delinsCAGG NP_001165906.1:p.Ala552=
NM_012233.2:c.1655_1658delinsCAGG NP_036365.1:p.Ala552=
XM_011510822.1:c.1655_1658delinsCAGG XP_011509124.1:p.Ala552=
XM_011510823.1:c.1655_1658delinsCAGG XP_011509125.1:p.Ala552=
XM_011510824.1:c.1655_1658delinsCAGG XP_011509126.1:p.Ala552=
XM_011510825.1:c.1655_1658delinsCAGG XP_011509127.1:p.Ala552=
XM_011510823.3:c.1655_1658delinsCAGG XP_011509125.1:p.Ala552=
XM_011510825.3:c.1655_1658delinsCAGG XP_011509127.1:p.Ala552=
XR_001738674.2:n.1682_1685delinsCAGG
NM_001172435.2:c.1655_1658delinsCAGG NP_001165906.1:p.Ala552=
NM_012233.3:c.1655_1658delinsCAGG MANE Select NP_036365.1:p.Ala552=