Canonical Allele Identifier: CA1290527919
Gene: RAB3GAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135946_135135957delinsGTTCTTTCCATT , CM000664.2:g.135135946_135135957delinsGTTCTTTCCATT GRCh38
NC_000002.11:g.135893516_135893527delinsGTTCTTTCCATT , CM000664.1:g.135893516_135893527delinsGTTCTTTCCATT GRCh37
NC_000002.10:g.135609986_135609997delinsGTTCTTTCCATT NCBI36
NG_016972.1:g.88682_88693delinsGTTCTTTCCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1923+14_1923+25delinsGTTCTTTCCATT ENSP00000444306.2:n.1923+14_1923+25delinsGTTCTTTCCATT
ENST00000685967.1:c.*1380+14_*1380+25delinsGTTCTTTCCATT ENSP00000508423.1:n.*1380+14_*1380+25delinsGTTCTTTCCATT
ENST00000686114.1:n.2269+14_2269+25delinsGTTCTTTCCATT
ENST00000687199.1:c.*1991+14_*1991+25delinsGTTCTTTCCATT ENSP00000510319.1:n.*1991+14_*1991+25delinsGTTCTTTCCATT
ENST00000688088.1:n.1942+14_1942+25delinsGTTCTTTCCATT
ENST00000688182.1:c.151-31747_151-31736delinsGTTCTTTCCATT ENSP00000509324.1:n.151-31747_151-31736delinsGTTCTTTCCATT
ENST00000689880.1:n.1942+14_1942+25delinsGTTCTTTCCATT
ENST00000690208.1:c.*1601+14_*1601+25delinsGTTCTTTCCATT ENSP00000510746.1:n.*1601+14_*1601+25delinsGTTCTTTCCATT
ENST00000690785.1:n.1942+14_1942+25delinsGTTCTTTCCATT
ENST00000691339.1:c.*1546+14_*1546+25delinsGTTCTTTCCATT ENSP00000509953.1:n.*1546+14_*1546+25delinsGTTCTTTCCATT
ENST00000691478.1:c.*2022+14_*2022+25delinsGTTCTTTCCATT ENSP00000509081.1:n.*2022+14_*2022+25delinsGTTCTTTCCATT
ENST00000693554.1:c.1923+14_1923+25delinsGTTCTTTCCATT ENSP00000509030.1:n.1923+14_1923+25delinsGTTCTTTCCATT
ENST00000264158.13:c.1923+14_1923+25delinsGTTCTTTCCATT MANE Select ENSP00000264158.8:n.1923+14_1923+25delinsGTTCTTTCCATT
ENST00000264158.12:c.1923+14_1923+25delinsGTTCTTTCCATT ENSP00000264158.7:n.1923+14_1923+25delinsGTTCTTTCCATT
ENST00000442034.5:c.1923+14_1923+25delinsGTTCTTTCCATT ENSP00000411418.1:n.1923+14_1923+25delinsGTTCTTTCCATT
ENST00000487003.5:n.1992+14_1992+25delinsGTTCTTTCCATT
ENST00000539493.2:c.1791+14_1791+25delinsGTTCTTTCCATT ENSP00000444306.1:n.1791+14_1791+25delinsGTTCTTTCCATT
NM_001172435.1:c.1923+14_1923+25delinsGTTCTTTCCATT NP_001165906.1:n.1923+14_1923+25delinsGTTCTTTCCATT
NM_012233.2:c.1923+14_1923+25delinsGTTCTTTCCATT NP_036365.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XM_011510822.1:c.1923+14_1923+25delinsGTTCTTTCCATT XP_011509124.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XM_011510823.1:c.1923+14_1923+25delinsGTTCTTTCCATT XP_011509125.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XM_011510824.1:c.1923+14_1923+25delinsGTTCTTTCCATT XP_011509126.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XM_011510825.1:c.1923+14_1923+25delinsGTTCTTTCCATT XP_011509127.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XM_011510823.3:c.1923+14_1923+25delinsGTTCTTTCCATT XP_011509125.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XM_011510825.3:c.1923+14_1923+25delinsGTTCTTTCCATT XP_011509127.1:n.1923+14_1923+25delinsGTTCTTTCCATT
XR_001738674.2:n.1950+14_1950+25delinsGTTCTTTCCATT
NM_001172435.2:c.1923+14_1923+25delinsGTTCTTTCCATT NP_001165906.1:n.1923+14_1923+25delinsGTTCTTTCCATT
NM_012233.3:c.1923+14_1923+25delinsGTTCTTTCCATT MANE Select NP_036365.1:n.1923+14_1923+25delinsGTTCTTTCCATT