Canonical Allele Identifier: CA1290527807

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135708_135135709delinsGA , CM000664.2:g.135135708_135135709delinsGA	GRCh38
NC_000002.11:g.135893278_135893279delinsGA , CM000664.1:g.135893278_135893279delinsGA	GRCh37
NC_000002.10:g.135609748_135609749delinsGA	NCBI36
NG_016972.1:g.88444_88445delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1699_1700delinsGA	ENSP00000444306.2:p.Glu567=
ENST00000685967.1:c.*1156_*1157delinsGA	ENSP00000508423.1:n.*1156_*1157delinsGA
ENST00000686114.1:n.2045_2046delinsGA
ENST00000687199.1:c.*1767_*1768delinsGA	ENSP00000510319.1:n.*1767_*1768delinsGA
ENST00000688088.1:n.1718_1719delinsGA
ENST00000688182.1:c.151-31985_151-31984delinsGA	ENSP00000509324.1:n.151-31985_151-31984delinsGA
ENST00000689880.1:n.1718_1719delinsGA
ENST00000690208.1:c.*1377_*1378delinsGA	ENSP00000510746.1:n.*1377_*1378delinsGA
ENST00000690785.1:n.1718_1719delinsGA
ENST00000691339.1:c.*1322_*1323delinsGA	ENSP00000509953.1:n.*1322_*1323delinsGA
ENST00000691478.1:c.*1798_*1799delinsGA	ENSP00000509081.1:n.*1798_*1799delinsGA
ENST00000693554.1:c.1699_1700delinsGA	ENSP00000509030.1:p.Glu567=
ENST00000264158.13:c.1699_1700delinsGA MANE Select	ENSP00000264158.8:p.Glu567=
ENST00000264158.12:c.1699_1700delinsGA	ENSP00000264158.7:p.Glu567=
ENST00000442034.5:c.1699_1700delinsGA	ENSP00000411418.1:p.Glu567=
ENST00000487003.5:n.1768_1769delinsGA
ENST00000539493.2:c.1567_1568delinsGA	ENSP00000444306.1:p.Glu523=
NM_001172435.1:c.1699_1700delinsGA	NP_001165906.1:p.Glu567=
NM_012233.2:c.1699_1700delinsGA	NP_036365.1:p.Glu567=
XM_011510822.1:c.1699_1700delinsGA	XP_011509124.1:p.Glu567=
XM_011510823.1:c.1699_1700delinsGA	XP_011509125.1:p.Glu567=
XM_011510824.1:c.1699_1700delinsGA	XP_011509126.1:p.Glu567=
XM_011510825.1:c.1699_1700delinsGA	XP_011509127.1:p.Glu567=
XM_011510823.3:c.1699_1700delinsGA	XP_011509125.1:p.Glu567=
XM_011510825.3:c.1699_1700delinsGA	XP_011509127.1:p.Glu567=
XR_001738674.2:n.1726_1727delinsGA
NM_001172435.2:c.1699_1700delinsGA	NP_001165906.1:p.Glu567=
NM_012233.3:c.1699_1700delinsGA MANE Select	NP_036365.1:p.Glu567=