Canonical Allele Identifier: CA1290527991

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135136095_135136103delinsGTGGGCAGA , CM000664.2:g.135136095_135136103delinsGTGGGCAGA	GRCh38
NC_000002.11:g.135893665_135893673delinsGTGGGCAGA , CM000664.1:g.135893665_135893673delinsGTGGGCAGA	GRCh37
NC_000002.10:g.135610135_135610143delinsGTGGGCAGA	NCBI36
NG_016972.1:g.88831_88839delinsGTGGGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1923+163_1923+171delinsGTGGGCAGA	ENSP00000444306.2:n.1923+163_1923+171delinsGTGGGCAGA
ENST00000685967.1:c.*1380+163_*1380+171delinsGTGGGCAGA	ENSP00000508423.1:n.*1380+163_*1380+171delinsGTGGGCAGA
ENST00000686114.1:n.2269+163_2269+171delinsGTGGGCAGA
ENST00000687199.1:c.*1991+163_*1991+171delinsGTGGGCAGA	ENSP00000510319.1:n.*1991+163_*1991+171delinsGTGGGCAGA
ENST00000688088.1:n.1942+163_1942+171delinsGTGGGCAGA
ENST00000688182.1:c.151-31598_151-31590delinsGTGGGCAGA	ENSP00000509324.1:n.151-31598_151-31590delinsGTGGGCAGA
ENST00000689880.1:n.1942+163_1942+171delinsGTGGGCAGA
ENST00000690208.1:c.*1601+163_*1601+171delinsGTGGGCAGA	ENSP00000510746.1:n.*1601+163_*1601+171delinsGTGGGCAGA
ENST00000690785.1:n.1942+163_1942+171delinsGTGGGCAGA
ENST00000691339.1:c.*1546+163_*1546+171delinsGTGGGCAGA	ENSP00000509953.1:n.*1546+163_*1546+171delinsGTGGGCAGA
ENST00000691478.1:c.*2022+163_*2022+171delinsGTGGGCAGA	ENSP00000509081.1:n.*2022+163_*2022+171delinsGTGGGCAGA
ENST00000693554.1:c.1923+163_1923+171delinsGTGGGCAGA	ENSP00000509030.1:n.1923+163_1923+171delinsGTGGGCAGA
ENST00000264158.13:c.1923+163_1923+171delinsGTGGGCAGA MANE Select	ENSP00000264158.8:n.1923+163_1923+171delinsGTGGGCAGA
ENST00000264158.12:c.1923+163_1923+171delinsGTGGGCAGA	ENSP00000264158.7:n.1923+163_1923+171delinsGTGGGCAGA
ENST00000442034.5:c.1923+163_1923+171delinsGTGGGCAGA	ENSP00000411418.1:n.1923+163_1923+171delinsGTGGGCAGA
ENST00000487003.5:n.1992+163_1992+171delinsGTGGGCAGA
ENST00000539493.2:c.1791+163_1791+171delinsGTGGGCAGA	ENSP00000444306.1:n.1791+163_1791+171delinsGTGGGCAGA
NM_001172435.1:c.1923+163_1923+171delinsGTGGGCAGA	NP_001165906.1:n.1923+163_1923+171delinsGTGGGCAGA
NM_012233.2:c.1923+163_1923+171delinsGTGGGCAGA	NP_036365.1:n.1923+163_1923+171delinsGTGGGCAGA
XM_011510822.1:c.1923+163_1923+171delinsGTGGGCAGA	XP_011509124.1:n.1923+163_1923+171delinsGTGGGCAGA
XM_011510823.1:c.1923+163_1923+171delinsGTGGGCAGA	XP_011509125.1:n.1923+163_1923+171delinsGTGGGCAGA
XM_011510824.1:c.1923+163_1923+171delinsGTGGGCAGA	XP_011509126.1:n.1923+163_1923+171delinsGTGGGCAGA
XM_011510825.1:c.1923+163_1923+171delinsGTGGGCAGA	XP_011509127.1:n.1923+163_1923+171delinsGTGGGCAGA
XM_011510823.3:c.1923+163_1923+171delinsGTGGGCAGA	XP_011509125.1:n.1923+163_1923+171delinsGTGGGCAGA
XM_011510825.3:c.1923+163_1923+171delinsGTGGGCAGA	XP_011509127.1:n.1923+163_1923+171delinsGTGGGCAGA
XR_001738674.2:n.1950+163_1950+171delinsGTGGGCAGA
NM_001172435.2:c.1923+163_1923+171delinsGTGGGCAGA	NP_001165906.1:n.1923+163_1923+171delinsGTGGGCAGA
NM_012233.3:c.1923+163_1923+171delinsGTGGGCAGA MANE Select	NP_036365.1:n.1923+163_1923+171delinsGTGGGCAGA