Canonical Allele Identifier: CA536383174
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135132990_135132992del , CM000664.2:g.135132990_135132992del GRCh38
NC_000002.11:g.135890560_135890562del , CM000664.1:g.135890560_135890562del GRCh37
NC_000002.10:g.135607030_135607032del NCBI36
NG_016972.1:g.85726_85728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1326+6_1326+8del ENSP00000444306.2:n.1326+6_1326+8del
ENST00000685967.1:c.*783+6_*783+8del ENSP00000508423.1:n.*783+6_*783+8del
ENST00000686114.1:n.1672+6_1672+8del
ENST00000687199.1:c.*1394+6_*1394+8del ENSP00000510319.1:n.*1394+6_*1394+8del
ENST00000688088.1:n.1345+6_1345+8del
ENST00000688182.1:c.151-34703_151-34701del ENSP00000509324.1:n.151-34703_151-34701del
ENST00000689880.1:n.1345+6_1345+8del
ENST00000690208.1:c.*1004+6_*1004+8del ENSP00000510746.1:n.*1004+6_*1004+8del
ENST00000690785.1:n.1345+6_1345+8del
ENST00000691339.1:c.*949+6_*949+8del ENSP00000509953.1:n.*949+6_*949+8del
ENST00000691478.1:c.*1425+6_*1425+8del ENSP00000509081.1:n.*1425+6_*1425+8del
ENST00000693554.1:c.1326+6_1326+8del ENSP00000509030.1:n.1326+6_1326+8del
ENST00000264158.13:c.1326+6_1326+8del MANE Select ENSP00000264158.8:n.1326+6_1326+8del
ENST00000264158.12:c.1326+6_1326+8del ENSP00000264158.7:n.1326+6_1326+8del
ENST00000442034.5:c.1326+6_1326+8del ENSP00000411418.1:n.1326+6_1326+8del
ENST00000487003.5:n.1395+6_1395+8del
ENST00000539493.2:c.1194+6_1194+8del ENSP00000444306.1:n.1194+6_1194+8del
NM_001172435.1:c.1326+6_1326+8del NP_001165906.1:n.1326+6_1326+8del
NM_012233.2:c.1326+6_1326+8del NP_036365.1:n.1326+6_1326+8del
XM_011510822.1:c.1326+6_1326+8del XP_011509124.1:n.1326+6_1326+8del
XM_011510823.1:c.1326+6_1326+8del XP_011509125.1:n.1326+6_1326+8del
XM_011510824.1:c.1326+6_1326+8del XP_011509126.1:n.1326+6_1326+8del
XM_011510825.1:c.1326+6_1326+8del XP_011509127.1:n.1326+6_1326+8del
XM_011510823.3:c.1326+6_1326+8del XP_011509125.1:n.1326+6_1326+8del
XM_011510825.3:c.1326+6_1326+8del XP_011509127.1:n.1326+6_1326+8del
XR_001738674.2:n.1353+6_1353+8del
NM_001172435.2:c.1326+6_1326+8del NP_001165906.1:n.1326+6_1326+8del
NM_012233.3:c.1326+6_1326+8del MANE Select NP_036365.1:n.1326+6_1326+8del