Canonical Allele Identifier: CA1290527929
Gene: RAB3GAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1691670309

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135967_135135968insC , CM000664.2:g.135135967_135135968insC GRCh38
NC_000002.11:g.135893537_135893538insC , CM000664.1:g.135893537_135893538insC GRCh37
NC_000002.10:g.135610007_135610008insC NCBI36
NG_016972.1:g.88703_88704insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1923+35_1923+36insC ENSP00000444306.2:n.1923+35_1923+36insC
ENST00000685967.1:c.*1380+35_*1380+36insC ENSP00000508423.1:n.*1380+35_*1380+36insC
ENST00000686114.1:n.2269+35_2269+36insC
ENST00000687199.1:c.*1991+35_*1991+36insC ENSP00000510319.1:n.*1991+35_*1991+36insC
ENST00000688088.1:n.1942+35_1942+36insC
ENST00000688182.1:c.151-31726_151-31725insC ENSP00000509324.1:n.151-31726_151-31725insC
ENST00000689880.1:n.1942+35_1942+36insC
ENST00000690208.1:c.*1601+35_*1601+36insC ENSP00000510746.1:n.*1601+35_*1601+36insC
ENST00000690785.1:n.1942+35_1942+36insC
ENST00000691339.1:c.*1546+35_*1546+36insC ENSP00000509953.1:n.*1546+35_*1546+36insC
ENST00000691478.1:c.*2022+35_*2022+36insC ENSP00000509081.1:n.*2022+35_*2022+36insC
ENST00000693554.1:c.1923+35_1923+36insC ENSP00000509030.1:n.1923+35_1923+36insC
ENST00000264158.13:c.1923+35_1923+36insC MANE Select ENSP00000264158.8:n.1923+35_1923+36insC
ENST00000264158.12:c.1923+35_1923+36insC ENSP00000264158.7:n.1923+35_1923+36insC
ENST00000442034.5:c.1923+35_1923+36insC ENSP00000411418.1:n.1923+35_1923+36insC
ENST00000487003.5:n.1992+35_1992+36insC
ENST00000539493.2:c.1791+35_1791+36insC ENSP00000444306.1:n.1791+35_1791+36insC
NM_001172435.1:c.1923+35_1923+36insC NP_001165906.1:n.1923+35_1923+36insC
NM_012233.2:c.1923+35_1923+36insC NP_036365.1:n.1923+35_1923+36insC
XM_011510822.1:c.1923+35_1923+36insC XP_011509124.1:n.1923+35_1923+36insC
XM_011510823.1:c.1923+35_1923+36insC XP_011509125.1:n.1923+35_1923+36insC
XM_011510824.1:c.1923+35_1923+36insC XP_011509126.1:n.1923+35_1923+36insC
XM_011510825.1:c.1923+35_1923+36insC XP_011509127.1:n.1923+35_1923+36insC
XM_011510823.3:c.1923+35_1923+36insC XP_011509125.1:n.1923+35_1923+36insC
XM_011510825.3:c.1923+35_1923+36insC XP_011509127.1:n.1923+35_1923+36insC
XR_001738674.2:n.1950+35_1950+36insC
NM_001172435.2:c.1923+35_1923+36insC NP_001165906.1:n.1923+35_1923+36insC
NM_012233.3:c.1923+35_1923+36insC MANE Select NP_036365.1:n.1923+35_1923+36insC