Canonical Allele Identifier: CA1290527970

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135136057_135136063delinsGGCTTAC , CM000664.2:g.135136057_135136063delinsGGCTTAC	GRCh38
NC_000002.11:g.135893627_135893633delinsGGCTTAC , CM000664.1:g.135893627_135893633delinsGGCTTAC	GRCh37
NC_000002.10:g.135610097_135610103delinsGGCTTAC	NCBI36
NG_016972.1:g.88793_88799delinsGGCTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1923+125_1923+131delinsGGCTTAC	ENSP00000444306.2:n.1923+125_1923+131delinsGGCTTAC
ENST00000685967.1:c.*1380+125_*1380+131delinsGGCTTAC	ENSP00000508423.1:n.*1380+125_*1380+131delinsGGCTTAC
ENST00000686114.1:n.2269+125_2269+131delinsGGCTTAC
ENST00000687199.1:c.*1991+125_*1991+131delinsGGCTTAC	ENSP00000510319.1:n.*1991+125_*1991+131delinsGGCTTAC
ENST00000688088.1:n.1942+125_1942+131delinsGGCTTAC
ENST00000688182.1:c.151-31636_151-31630delinsGGCTTAC	ENSP00000509324.1:n.151-31636_151-31630delinsGGCTTAC
ENST00000689880.1:n.1942+125_1942+131delinsGGCTTAC
ENST00000690208.1:c.*1601+125_*1601+131delinsGGCTTAC	ENSP00000510746.1:n.*1601+125_*1601+131delinsGGCTTAC
ENST00000690785.1:n.1942+125_1942+131delinsGGCTTAC
ENST00000691339.1:c.*1546+125_*1546+131delinsGGCTTAC	ENSP00000509953.1:n.*1546+125_*1546+131delinsGGCTTAC
ENST00000691478.1:c.*2022+125_*2022+131delinsGGCTTAC	ENSP00000509081.1:n.*2022+125_*2022+131delinsGGCTTAC
ENST00000693554.1:c.1923+125_1923+131delinsGGCTTAC	ENSP00000509030.1:n.1923+125_1923+131delinsGGCTTAC
ENST00000264158.13:c.1923+125_1923+131delinsGGCTTAC MANE Select	ENSP00000264158.8:n.1923+125_1923+131delinsGGCTTAC
ENST00000264158.12:c.1923+125_1923+131delinsGGCTTAC	ENSP00000264158.7:n.1923+125_1923+131delinsGGCTTAC
ENST00000442034.5:c.1923+125_1923+131delinsGGCTTAC	ENSP00000411418.1:n.1923+125_1923+131delinsGGCTTAC
ENST00000487003.5:n.1992+125_1992+131delinsGGCTTAC
ENST00000539493.2:c.1791+125_1791+131delinsGGCTTAC	ENSP00000444306.1:n.1791+125_1791+131delinsGGCTTAC
NM_001172435.1:c.1923+125_1923+131delinsGGCTTAC	NP_001165906.1:n.1923+125_1923+131delinsGGCTTAC
NM_012233.2:c.1923+125_1923+131delinsGGCTTAC	NP_036365.1:n.1923+125_1923+131delinsGGCTTAC
XM_011510822.1:c.1923+125_1923+131delinsGGCTTAC	XP_011509124.1:n.1923+125_1923+131delinsGGCTTAC
XM_011510823.1:c.1923+125_1923+131delinsGGCTTAC	XP_011509125.1:n.1923+125_1923+131delinsGGCTTAC
XM_011510824.1:c.1923+125_1923+131delinsGGCTTAC	XP_011509126.1:n.1923+125_1923+131delinsGGCTTAC
XM_011510825.1:c.1923+125_1923+131delinsGGCTTAC	XP_011509127.1:n.1923+125_1923+131delinsGGCTTAC
XM_011510823.3:c.1923+125_1923+131delinsGGCTTAC	XP_011509125.1:n.1923+125_1923+131delinsGGCTTAC
XM_011510825.3:c.1923+125_1923+131delinsGGCTTAC	XP_011509127.1:n.1923+125_1923+131delinsGGCTTAC
XR_001738674.2:n.1950+125_1950+131delinsGGCTTAC
NM_001172435.2:c.1923+125_1923+131delinsGGCTTAC	NP_001165906.1:n.1923+125_1923+131delinsGGCTTAC
NM_012233.3:c.1923+125_1923+131delinsGGCTTAC MANE Select	NP_036365.1:n.1923+125_1923+131delinsGGCTTAC