Canonical Allele Identifier: CA2524239105

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135846_135135847insCAAAGAGCCTGTAA , CM000664.2:g.135135846_135135847insCAAAGAGCCTGTAA	GRCh38
NC_000002.11:g.135893416_135893417insCAAAGAGCCTGTAA , CM000664.1:g.135893416_135893417insCAAAGAGCCTGTAA	GRCh37
NC_000002.10:g.135609886_135609887insCAAAGAGCCTGTAA	NCBI36
NG_016972.1:g.88582_88583insCAAAGAGCCTGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1837_1838insCAAAGAGCCTGTAA	ENSP00000444306.2:p.Asn613ThrfsTer5
ENST00000685967.1:c.*1294_*1295insCAAAGAGCCTGTAA	ENSP00000508423.1:n.*1294_*1295insCAAAGAGCCTGTAA
ENST00000686114.1:n.2183_2184insCAAAGAGCCTGTAA
ENST00000687199.1:c.*1905_*1906insCAAAGAGCCTGTAA	ENSP00000510319.1:n.*1905_*1906insCAAAGAGCCTGTAA
ENST00000688088.1:n.1856_1857insCAAAGAGCCTGTAA
ENST00000688182.1:c.151-31847_151-31846insCAAAGAGCCTGTAA	ENSP00000509324.1:n.151-31847_151-31846insCAAAGAGCCTGTAA
ENST00000689880.1:n.1856_1857insCAAAGAGCCTGTAA
ENST00000690208.1:c.*1515_*1516insCAAAGAGCCTGTAA	ENSP00000510746.1:n.*1515_*1516insCAAAGAGCCTGTAA
ENST00000690785.1:n.1856_1857insCAAAGAGCCTGTAA
ENST00000691339.1:c.*1460_*1461insCAAAGAGCCTGTAA	ENSP00000509953.1:n.*1460_*1461insCAAAGAGCCTGTAA
ENST00000691478.1:c.*1936_*1937insCAAAGAGCCTGTAA	ENSP00000509081.1:n.*1936_*1937insCAAAGAGCCTGTAA
ENST00000693554.1:c.1837_1838insCAAAGAGCCTGTAA	ENSP00000509030.1:p.Asn613ThrfsTer5
ENST00000264158.13:c.1837_1838insCAAAGAGCCTGTAA MANE Select	ENSP00000264158.8:p.Asn613ThrfsTer5
ENST00000264158.12:c.1837_1838insCAAAGAGCCTGTAA	ENSP00000264158.7:p.Asn613ThrfsTer5
ENST00000442034.5:c.1837_1838insCAAAGAGCCTGTAA	ENSP00000411418.1:p.Asn613ThrfsTer5
ENST00000487003.5:n.1906_1907insCAAAGAGCCTGTAA
ENST00000539493.2:c.1705_1706insCAAAGAGCCTGTAA	ENSP00000444306.1:p.Asn569ThrfsTer5
NM_001172435.1:c.1837_1838insCAAAGAGCCTGTAA	NP_001165906.1:p.Asn613ThrfsTer5
NM_012233.2:c.1837_1838insCAAAGAGCCTGTAA	NP_036365.1:p.Asn613ThrfsTer5
XM_011510822.1:c.1837_1838insCAAAGAGCCTGTAA	XP_011509124.1:p.Asn613ThrfsTer5
XM_011510823.1:c.1837_1838insCAAAGAGCCTGTAA	XP_011509125.1:p.Asn613ThrfsTer5
XM_011510824.1:c.1837_1838insCAAAGAGCCTGTAA	XP_011509126.1:p.Asn613ThrfsTer5
XM_011510825.1:c.1837_1838insCAAAGAGCCTGTAA	XP_011509127.1:p.Asn613ThrfsTer5
XM_011510823.3:c.1837_1838insCAAAGAGCCTGTAA	XP_011509125.1:p.Asn613ThrfsTer5
XM_011510825.3:c.1837_1838insCAAAGAGCCTGTAA	XP_011509127.1:p.Asn613ThrfsTer5
XR_001738674.2:n.1864_1865insCAAAGAGCCTGTAA
NM_001172435.2:c.1837_1838insCAAAGAGCCTGTAA	NP_001165906.1:p.Asn613ThrfsTer5
NM_012233.3:c.1837_1838insCAAAGAGCCTGTAA MANE Select	NP_036365.1:p.Asn613ThrfsTer5