Canonical Allele Identifier: CA916657007
Gene: RAB3GAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1558793478

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135589_135135592del , CM000664.2:g.135135589_135135592del GRCh38
NC_000002.11:g.135893159_135893162del , CM000664.1:g.135893159_135893162del GRCh37
NC_000002.10:g.135609629_135609632del NCBI36
NG_016972.1:g.88325_88328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1580_1583del ENSP00000444306.2:p.Lys527ArgfsTer?
ENST00000685967.1:c.*1037_*1040del ENSP00000508423.1:n.*1037_*1040del
ENST00000686114.1:n.1926_1929del
ENST00000687199.1:c.*1648_*1651del ENSP00000510319.1:n.*1648_*1651del
ENST00000688088.1:n.1599_1602del
ENST00000688182.1:c.151-32104_151-32101del ENSP00000509324.1:n.151-32104_151-32101del
ENST00000689880.1:n.1599_1602del
ENST00000690208.1:c.*1258_*1261del ENSP00000510746.1:n.*1258_*1261del
ENST00000690785.1:n.1599_1602del
ENST00000691339.1:c.*1203_*1206del ENSP00000509953.1:n.*1203_*1206del
ENST00000691478.1:c.*1679_*1682del ENSP00000509081.1:n.*1679_*1682del
ENST00000693554.1:c.1580_1583del ENSP00000509030.1:p.Lys527ArgfsTer?
ENST00000264158.13:c.1580_1583del MANE Select ENSP00000264158.8:p.Lys527ArgfsTer?
ENST00000264158.12:c.1580_1583del ENSP00000264158.7:p.Lys527ArgfsTer?
ENST00000442034.5:c.1580_1583del ENSP00000411418.1:p.Lys527ArgfsTer?
ENST00000487003.5:n.1649_1652del
ENST00000539493.2:c.1448_1451del ENSP00000444306.1:p.Lys483ArgfsTer?
NM_001172435.1:c.1580_1583del NP_001165906.1:p.Lys527ArgfsTer?
NM_012233.2:c.1580_1583del NP_036365.1:p.Lys527ArgfsTer?
XM_011510822.1:c.1580_1583del XP_011509124.1:p.Lys527ArgfsTer?
XM_011510823.1:c.1580_1583del XP_011509125.1:p.Lys527ArgfsTer?
XM_011510824.1:c.1580_1583del XP_011509126.1:p.Lys527ArgfsTer?
XM_011510825.1:c.1580_1583del XP_011509127.1:p.Lys527ArgfsTer?
XM_011510823.3:c.1580_1583del XP_011509125.1:p.Lys527ArgfsTer?
XM_011510825.3:c.1580_1583del XP_011509127.1:p.Lys527ArgfsTer?
XR_001738674.2:n.1607_1610del
NM_001172435.2:c.1580_1583del NP_001165906.1:p.Lys527ArgfsTer?
NM_012233.3:c.1580_1583del MANE Select NP_036365.1:p.Lys527ArgfsTer?