Canonical Allele Identifier: CA1290527813

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs1691660260

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135716_135135717insAATAACATTTATAGTT , CM000664.2:g.135135716_135135717insAATAACATTTATAGTT	GRCh38
NC_000002.11:g.135893286_135893287insAATAACATTTATAGTT , CM000664.1:g.135893286_135893287insAATAACATTTATAGTT	GRCh37
NC_000002.10:g.135609756_135609757insAATAACATTTATAGTT	NCBI36
NG_016972.1:g.88452_88453insAATAACATTTATAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1707_1708insAATAACATTTATAGTT	ENSP00000444306.2:p.Glu570AsnfsTer6
ENST00000685967.1:c.*1164_*1165insAATAACATTTATAGTT	ENSP00000508423.1:n.*1164_*1165insAATAACATTTATAGTT
ENST00000686114.1:n.2053_2054insAATAACATTTATAGTT
ENST00000687199.1:c.*1775_*1776insAATAACATTTATAGTT	ENSP00000510319.1:n.*1775_*1776insAATAACATTTATAGTT
ENST00000688088.1:n.1726_1727insAATAACATTTATAGTT
ENST00000688182.1:c.151-31977_151-31976insAATAACATTTATAGTT	ENSP00000509324.1:n.151-31977_151-31976insAATAACATTTATAGTT
ENST00000689880.1:n.1726_1727insAATAACATTTATAGTT
ENST00000690208.1:c.*1385_*1386insAATAACATTTATAGTT	ENSP00000510746.1:n.*1385_*1386insAATAACATTTATAGTT
ENST00000690785.1:n.1726_1727insAATAACATTTATAGTT
ENST00000691339.1:c.*1330_*1331insAATAACATTTATAGTT	ENSP00000509953.1:n.*1330_*1331insAATAACATTTATAGTT
ENST00000691478.1:c.*1806_*1807insAATAACATTTATAGTT	ENSP00000509081.1:n.*1806_*1807insAATAACATTTATAGTT
ENST00000693554.1:c.1707_1708insAATAACATTTATAGTT	ENSP00000509030.1:p.Glu570AsnfsTer6
ENST00000264158.13:c.1707_1708insAATAACATTTATAGTT MANE Select	ENSP00000264158.8:p.Glu570AsnfsTer6
ENST00000264158.12:c.1707_1708insAATAACATTTATAGTT	ENSP00000264158.7:p.Glu570AsnfsTer6
ENST00000442034.5:c.1707_1708insAATAACATTTATAGTT	ENSP00000411418.1:p.Glu570AsnfsTer6
ENST00000487003.5:n.1776_1777insAATAACATTTATAGTT
ENST00000539493.2:c.1575_1576insAATAACATTTATAGTT	ENSP00000444306.1:p.Glu526AsnfsTer6
NM_001172435.1:c.1707_1708insAATAACATTTATAGTT	NP_001165906.1:p.Glu570AsnfsTer6
NM_012233.2:c.1707_1708insAATAACATTTATAGTT	NP_036365.1:p.Glu570AsnfsTer6
XM_011510822.1:c.1707_1708insAATAACATTTATAGTT	XP_011509124.1:p.Glu570AsnfsTer6
XM_011510823.1:c.1707_1708insAATAACATTTATAGTT	XP_011509125.1:p.Glu570AsnfsTer6
XM_011510824.1:c.1707_1708insAATAACATTTATAGTT	XP_011509126.1:p.Glu570AsnfsTer6
XM_011510825.1:c.1707_1708insAATAACATTTATAGTT	XP_011509127.1:p.Glu570AsnfsTer6
XM_011510823.3:c.1707_1708insAATAACATTTATAGTT	XP_011509125.1:p.Glu570AsnfsTer6
XM_011510825.3:c.1707_1708insAATAACATTTATAGTT	XP_011509127.1:p.Glu570AsnfsTer6
XR_001738674.2:n.1734_1735insAATAACATTTATAGTT
NM_001172435.2:c.1707_1708insAATAACATTTATAGTT	NP_001165906.1:p.Glu570AsnfsTer6
NM_012233.3:c.1707_1708insAATAACATTTATAGTT MANE Select	NP_036365.1:p.Glu570AsnfsTer6