Canonical Allele Identifier: CA429201870
Gene: RAB3GAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135752_135135753insATCCCCTGGATATATATTA , CM000664.2:g.135135752_135135753insATCCCCTGGATATATATTA GRCh38
NC_000002.11:g.135893322_135893323insATCCCCTGGATATATATTA , CM000664.1:g.135893322_135893323insATCCCCTGGATATATATTA GRCh37
NC_000002.10:g.135609792_135609793insATCCCCTGGATATATATTA NCBI36
NG_016972.1:g.88488_88489insATCCCCTGGATATATATTA

Transcript Alleles

HGVS Amino-acid change
ENST00000539493.3:c.1743_1744insATCCCCTGGATATATATTA ENSP00000444306.2:p.Glu582IlefsTer12
ENST00000685967.1:c.*1200_*1201insATCCCCTGGATATATATTA ENSP00000508423.1:n.*1200_*1201insATCCCCT...
ENST00000686114.1:n.2089_2090insATCCCCTGGATATATATTA
ENST00000687199.1:c.*1811_*1812insATCCCCTGGATATATATTA ENSP00000510319.1:n.*1811_*1812insATCCCCT...
ENST00000688088.1:n.1762_1763insATCCCCTGGATATATATTA
ENST00000688182.1:c.151-31941_151-31940insATCCCCTGGATATATATTA ENSP00000509324.1:n.151-31941_151-31940in...
ENST00000689880.1:n.1762_1763insATCCCCTGGATATATATTA
ENST00000690208.1:c.*1421_*1422insATCCCCTGGATATATATTA ENSP00000510746.1:n.*1421_*1422insATCCCCT...
ENST00000690785.1:n.1762_1763insATCCCCTGGATATATATTA
ENST00000691339.1:c.*1366_*1367insATCCCCTGGATATATATTA ENSP00000509953.1:n.*1366_*1367insATCCCCT...
ENST00000691478.1:c.*1842_*1843insATCCCCTGGATATATATTA ENSP00000509081.1:n.*1842_*1843insATCCCCT...
ENST00000693554.1:c.1743_1744insATCCCCTGGATATATATTA ENSP00000509030.1:p.Glu582IlefsTer12
ENST00000264158.13:c.1743_1744insATCCCCTGGATATATATTA MANE Select ENSP00000264158.8:p.Glu582IlefsTer12
ENST00000264158.12:c.1743_1744insATCCCCTGGATATATATTA ENSP00000264158.7:p.Glu582IlefsTer12
ENST00000442034.5:c.1743_1744insATCCCCTGGATATATATTA ENSP00000411418.1:p.Glu582IlefsTer12
ENST00000487003.5:n.1812_1813insATCCCCTGGATATATATTA
ENST00000539493.2:c.1611_1612insATCCCCTGGATATATATTA ENSP00000444306.1:p.Glu538IlefsTer12
NM_001172435.1:c.1743_1744insATCCCCTGGATATATATTA NP_001165906.1:p.Glu582IlefsTer12
NM_012233.2:c.1743_1744insATCCCCTGGATATATATTA NP_036365.1:p.Glu582IlefsTer12
XM_011510822.1:c.1743_1744insATCCCCTGGATATATATTA XP_011509124.1:p.Glu582IlefsTer12
XM_011510823.1:c.1743_1744insATCCCCTGGATATATATTA XP_011509125.1:p.Glu582IlefsTer12
XM_011510824.1:c.1743_1744insATCCCCTGGATATATATTA XP_011509126.1:p.Glu582IlefsTer12
XM_011510825.1:c.1743_1744insATCCCCTGGATATATATTA XP_011509127.1:p.Glu582IlefsTer12
XM_011510823.3:c.1743_1744insATCCCCTGGATATATATTA XP_011509125.1:p.Glu582IlefsTer12
XM_011510825.3:c.1743_1744insATCCCCTGGATATATATTA XP_011509127.1:p.Glu582IlefsTer12
XR_001738674.2:n.1770_1771insATCCCCTGGATATATATTA
NM_001172435.2:c.1743_1744insATCCCCTGGATATATATTA NP_001165906.1:p.Glu582IlefsTer12
NM_012233.3:c.1743_1744insATCCCCTGGATATATATTA MANE Select NP_036365.1:p.Glu582IlefsTer12