Canonical Allele Identifier: CA1290527764
Gene: RAB3GAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1691656099

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135612_135135613del , CM000664.2:g.135135612_135135613del GRCh38
NC_000002.11:g.135893182_135893183del , CM000664.1:g.135893182_135893183del GRCh37
NC_000002.10:g.135609652_135609653del NCBI36
NG_016972.1:g.88348_88349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1603_1604del ENSP00000444306.2:p.Lys535AspfsTer8
ENST00000685967.1:c.*1060_*1061del ENSP00000508423.1:n.*1060_*1061del
ENST00000686114.1:n.1949_1950del
ENST00000687199.1:c.*1671_*1672del ENSP00000510319.1:n.*1671_*1672del
ENST00000688088.1:n.1622_1623del
ENST00000688182.1:c.151-32081_151-32080del ENSP00000509324.1:n.151-32081_151-32080del
ENST00000689880.1:n.1622_1623del
ENST00000690208.1:c.*1281_*1282del ENSP00000510746.1:n.*1281_*1282del
ENST00000690785.1:n.1622_1623del
ENST00000691339.1:c.*1226_*1227del ENSP00000509953.1:n.*1226_*1227del
ENST00000691478.1:c.*1702_*1703del ENSP00000509081.1:n.*1702_*1703del
ENST00000693554.1:c.1603_1604del ENSP00000509030.1:p.Lys535AspfsTer8
ENST00000264158.13:c.1603_1604del MANE Select ENSP00000264158.8:p.Lys535AspfsTer8
ENST00000264158.12:c.1603_1604del ENSP00000264158.7:p.Lys535AspfsTer8
ENST00000442034.5:c.1603_1604del ENSP00000411418.1:p.Lys535AspfsTer8
ENST00000487003.5:n.1672_1673del
ENST00000539493.2:c.1471_1472del ENSP00000444306.1:p.Lys491AspfsTer8
NM_001172435.1:c.1603_1604del NP_001165906.1:p.Lys535AspfsTer8
NM_012233.2:c.1603_1604del NP_036365.1:p.Lys535AspfsTer8
XM_011510822.1:c.1603_1604del XP_011509124.1:p.Lys535AspfsTer8
XM_011510823.1:c.1603_1604del XP_011509125.1:p.Lys535AspfsTer8
XM_011510824.1:c.1603_1604del XP_011509126.1:p.Lys535AspfsTer8
XM_011510825.1:c.1603_1604del XP_011509127.1:p.Lys535AspfsTer8
XM_011510823.3:c.1603_1604del XP_011509125.1:p.Lys535AspfsTer8
XM_011510825.3:c.1603_1604del XP_011509127.1:p.Lys535AspfsTer8
XR_001738674.2:n.1630_1631del
NM_001172435.2:c.1603_1604del NP_001165906.1:p.Lys535AspfsTer8
NM_012233.3:c.1603_1604del MANE Select NP_036365.1:p.Lys535AspfsTer8