Canonical Allele Identifier: CA2580611690
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135133974_135133975del , CM000664.2:g.135133974_135133975del GRCh38
NC_000002.11:g.135891544_135891545del , CM000664.1:g.135891544_135891545del GRCh37
NC_000002.10:g.135608014_135608015del NCBI36
NG_016972.1:g.86710_86711del

Transcript Alleles

HGVS Amino-acid Change
NM_012233.3:c.1440_1441del MANE Select NP_036365.1:p.Trp481AlafsTer6
ENST00000264158.13:c.1440_1441del MANE Select ENSP00000264158.8:p.Trp481AlafsTer6
NM_001172435.1:c.1440_1441del NP_001165906.1:p.Trp481AlafsTer6
NM_001172435.2:c.1440_1441del NP_001165906.1:p.Trp481AlafsTer6
NM_012233.2:c.1440_1441del NP_036365.1:p.Trp481AlafsTer6
ENST00000264158.12:c.1440_1441del ENSP00000264158.7:p.Trp481AlafsTer6
ENST00000442034.5:c.1440_1441del ENSP00000411418.1:p.Trp481AlafsTer6
ENST00000487003.5:n.1509_1510del
ENST00000539493.2:c.1308_1309del ENSP00000444306.1:p.Trp437AlafsTer6
ENST00000539493.3:c.1440_1441del ENSP00000444306.2:p.Trp481AlafsTer6
ENST00000685967.1:c.*897_*898del ENSP00000508423.1:n.*897_*898del
ENST00000686114.1:n.1786_1787del
ENST00000687199.1:c.*1508_*1509del ENSP00000510319.1:n.*1508_*1509del
ENST00000688088.1:n.1459_1460del
ENST00000688182.1:c.151-33719_151-33718del ENSP00000509324.1:n.151-33719_151-33718del
ENST00000689880.1:n.1459_1460del
ENST00000690208.1:c.*1118_*1119del ENSP00000510746.1:n.*1118_*1119del
ENST00000690785.1:n.1459_1460del
ENST00000691339.1:c.*1063_*1064del ENSP00000509953.1:n.*1063_*1064del
ENST00000691478.1:c.*1539_*1540del ENSP00000509081.1:n.*1539_*1540del
ENST00000693554.1:c.1440_1441del ENSP00000509030.1:p.Trp481AlafsTer6
XM_011510822.1:c.1440_1441del XP_011509124.1:p.Trp481AlafsTer6
XM_011510823.1:c.1440_1441del XP_011509125.1:p.Trp481AlafsTer6
XM_011510823.3:c.1440_1441del XP_011509125.1:p.Trp481AlafsTer6
XM_011510824.1:c.1440_1441del XP_011509126.1:p.Trp481AlafsTer6
XM_011510825.1:c.1440_1441del XP_011509127.1:p.Trp481AlafsTer6
XM_011510825.3:c.1440_1441del XP_011509127.1:p.Trp481AlafsTer6
XR_001738674.2:n.1467_1468del