Canonical Allele Identifier: CA536383179
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135132994_135132995insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG , CM000664.2:g.135132994_135132995insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG GRCh38
NC_000002.11:g.135890564_135890565insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG , CM000664.1:g.135890564_135890565insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG GRCh37
NC_000002.10:g.135607034_135607035insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG NCBI36
NG_016972.1:g.85730_85731insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000444306.2:n.1326+10_1326+11insTTTTATAACTCATATAGACATTA...
ENST00000685967.1:c.*783+10_*783+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000508423.1:n.*783+10_*783+11insTTTTATAACTCATATAGACATTA...
ENST00000686114.1:n.1672+10_1672+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG
ENST00000687199.1:c.*1394+10_*1394+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000510319.1:n.*1394+10_*1394+11insTTTTATAACTCATATAGACAT...
ENST00000688088.1:n.1345+10_1345+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG
ENST00000688182.1:c.151-34699_151-34698insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000509324.1:n.151-34699_151-34698insTTTTATAACTCATATAGAC...
ENST00000689880.1:n.1345+10_1345+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG
ENST00000690208.1:c.*1004+10_*1004+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000510746.1:n.*1004+10_*1004+11insTTTTATAACTCATATAGACAT...
ENST00000690785.1:n.1345+10_1345+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG
ENST00000691339.1:c.*949+10_*949+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000509953.1:n.*949+10_*949+11insTTTTATAACTCATATAGACATTA...
ENST00000691478.1:c.*1425+10_*1425+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000509081.1:n.*1425+10_*1425+11insTTTTATAACTCATATAGACAT...
ENST00000693554.1:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000509030.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTA...
ENST00000264158.13:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG MANE Select ENSP00000264158.8:n.1326+10_1326+11insTTTTATAACTCATATAGACATTA...
ENST00000264158.12:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000264158.7:n.1326+10_1326+11insTTTTATAACTCATATAGACATTA...
ENST00000442034.5:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000411418.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTA...
ENST00000487003.5:n.1395+10_1395+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG
ENST00000539493.2:c.1194+10_1194+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG ENSP00000444306.1:n.1194+10_1194+11insTTTTATAACTCATATAGACATTA...
NM_001172435.1:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG NP_001165906.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
NM_012233.2:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG NP_036365.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAAC...
XM_011510822.1:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG XP_011509124.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
XM_011510823.1:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG XP_011509125.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
XM_011510824.1:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG XP_011509126.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
XM_011510825.1:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG XP_011509127.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
XM_011510823.3:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG XP_011509125.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
XM_011510825.3:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG XP_011509127.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
XR_001738674.2:n.1353+10_1353+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG
NM_001172435.2:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG NP_001165906.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTT...
NM_012233.3:c.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAACTTTTTAATG MANE Select NP_036365.1:n.1326+10_1326+11insTTTTATAACTCATATAGACATTATTTAAC...