Canonical Allele Identifier: CA1290527816

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs1691660340

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135717_135135718insTTGAATT , CM000664.2:g.135135717_135135718insTTGAATT	GRCh38
NC_000002.11:g.135893287_135893288insTTGAATT , CM000664.1:g.135893287_135893288insTTGAATT	GRCh37
NC_000002.10:g.135609757_135609758insTTGAATT	NCBI36
NG_016972.1:g.88453_88454insTTGAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1708_1709insTTGAATT	ENSP00000444306.2:p.Glu570ValfsTer13
ENST00000685967.1:c.*1165_*1166insTTGAATT	ENSP00000508423.1:n.*1165_*1166insTTGAATT
ENST00000686114.1:n.2054_2055insTTGAATT
ENST00000687199.1:c.*1776_*1777insTTGAATT	ENSP00000510319.1:n.*1776_*1777insTTGAATT
ENST00000688088.1:n.1727_1728insTTGAATT
ENST00000688182.1:c.151-31976_151-31975insTTGAATT	ENSP00000509324.1:n.151-31976_151-31975insTTGAATT
ENST00000689880.1:n.1727_1728insTTGAATT
ENST00000690208.1:c.*1386_*1387insTTGAATT	ENSP00000510746.1:n.*1386_*1387insTTGAATT
ENST00000690785.1:n.1727_1728insTTGAATT
ENST00000691339.1:c.*1331_*1332insTTGAATT	ENSP00000509953.1:n.*1331_*1332insTTGAATT
ENST00000691478.1:c.*1807_*1808insTTGAATT	ENSP00000509081.1:n.*1807_*1808insTTGAATT
ENST00000693554.1:c.1708_1709insTTGAATT	ENSP00000509030.1:p.Glu570ValfsTer13
ENST00000264158.13:c.1708_1709insTTGAATT MANE Select	ENSP00000264158.8:p.Glu570ValfsTer13
ENST00000264158.12:c.1708_1709insTTGAATT	ENSP00000264158.7:p.Glu570ValfsTer13
ENST00000442034.5:c.1708_1709insTTGAATT	ENSP00000411418.1:p.Glu570ValfsTer13
ENST00000487003.5:n.1777_1778insTTGAATT
ENST00000539493.2:c.1576_1577insTTGAATT	ENSP00000444306.1:p.Glu526ValfsTer13
NM_001172435.1:c.1708_1709insTTGAATT	NP_001165906.1:p.Glu570ValfsTer13
NM_012233.2:c.1708_1709insTTGAATT	NP_036365.1:p.Glu570ValfsTer13
XM_011510822.1:c.1708_1709insTTGAATT	XP_011509124.1:p.Glu570ValfsTer13
XM_011510823.1:c.1708_1709insTTGAATT	XP_011509125.1:p.Glu570ValfsTer13
XM_011510824.1:c.1708_1709insTTGAATT	XP_011509126.1:p.Glu570ValfsTer13
XM_011510825.1:c.1708_1709insTTGAATT	XP_011509127.1:p.Glu570ValfsTer13
XM_011510823.3:c.1708_1709insTTGAATT	XP_011509125.1:p.Glu570ValfsTer13
XM_011510825.3:c.1708_1709insTTGAATT	XP_011509127.1:p.Glu570ValfsTer13
XR_001738674.2:n.1735_1736insTTGAATT
NM_001172435.2:c.1708_1709insTTGAATT	NP_001165906.1:p.Glu570ValfsTer13
NM_012233.3:c.1708_1709insTTGAATT MANE Select	NP_036365.1:p.Glu570ValfsTer13