Canonical Allele Identifier: CA536386161
Community Standard Title: NM_012233.3(RAB3GAP1):c.363-319_363-314del
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135112832_135112837del , CM000664.2:g.135112832_135112837del GRCh38
NC_000002.11:g.135870402_135870407del , CM000664.1:g.135870402_135870407del GRCh37
NC_000002.10:g.135586872_135586877del NCBI36
NG_016972.1:g.65568_65573del

Transcript Alleles

HGVS Amino-acid Change
NM_012233.3:c.363-319_363-314del MANE Select NP_036365.1:n.363-319_363-314del
ENST00000264158.13:c.363-319_363-314del MANE Select ENSP00000264158.8:n.363-319_363-314del
NM_001172435.1:c.363-319_363-314del NP_001165906.1:n.363-319_363-314del
NM_001172435.2:c.363-319_363-314del NP_001165906.1:n.363-319_363-314del
NM_012233.2:c.363-319_363-314del NP_036365.1:n.363-319_363-314del
ENST00000264158.12:c.363-319_363-314del ENSP00000264158.7:n.363-319_363-314del
ENST00000442034.5:c.363-319_363-314del ENSP00000411418.1:n.363-319_363-314del
ENST00000487003.5:n.432-319_432-314del
ENST00000539493.2:c.231-319_231-314del ENSP00000444306.1:n.231-319_231-314del
ENST00000539493.3:c.363-319_363-314del ENSP00000444306.2:n.363-319_363-314del
ENST00000685967.1:c.151-319_151-314del ENSP00000508423.1:n.151-319_151-314del
ENST00000686114.1:n.376-319_376-314del
ENST00000687199.1:c.*431-319_*431-314del ENSP00000510319.1:n.*431-319_*431-314del
ENST00000688088.1:n.382-319_382-314del
ENST00000688182.1:c.150+54746_150+54751del ENSP00000509324.1:n.150+54746_150+54751del
ENST00000689880.1:n.382-319_382-314del
ENST00000690208.1:c.*41-319_*41-314del ENSP00000510746.1:n.*41-319_*41-314del
ENST00000690785.1:n.382-319_382-314del
ENST00000691339.1:c.151-319_151-314del ENSP00000509953.1:n.151-319_151-314del
ENST00000691478.1:c.*462-319_*462-314del ENSP00000509081.1:n.*462-319_*462-314del
ENST00000693554.1:c.363-319_363-314del ENSP00000509030.1:n.363-319_363-314del
XM_011510822.1:c.363-319_363-314del XP_011509124.1:n.363-319_363-314del
XM_011510823.1:c.363-319_363-314del XP_011509125.1:n.363-319_363-314del
XM_011510823.3:c.363-319_363-314del XP_011509125.1:n.363-319_363-314del
XM_011510824.1:c.363-319_363-314del XP_011509126.1:n.363-319_363-314del
XM_011510825.1:c.363-319_363-314del XP_011509127.1:n.363-319_363-314del
XM_011510825.3:c.363-319_363-314del XP_011509127.1:n.363-319_363-314del
XR_001738674.2:n.390-319_390-314del