Canonical Allele Identifier: CA2661248797

Gene: RAB3GAP1

Linked Data

• gnomAD v4: 2-135136075-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135136076_135136077insAA , CM000664.2:g.135136076_135136077insAA	GRCh38
NC_000002.11:g.135893646_135893647insAA , CM000664.1:g.135893646_135893647insAA	GRCh37
NC_000002.10:g.135610116_135610117insAA	NCBI36
NG_016972.1:g.88812_88813insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1923+144_1923+145insAA	ENSP00000444306.2:n.1923+144_1923+145insAA
ENST00000685967.1:c.*1380+144_*1380+145insAA	ENSP00000508423.1:n.*1380+144_*1380+145insAA
ENST00000686114.1:n.2269+144_2269+145insAA
ENST00000687199.1:c.*1991+144_*1991+145insAA	ENSP00000510319.1:n.*1991+144_*1991+145insAA
ENST00000688088.1:n.1942+144_1942+145insAA
ENST00000688182.1:c.151-31617_151-31616insAA	ENSP00000509324.1:n.151-31617_151-31616insAA
ENST00000689880.1:n.1942+144_1942+145insAA
ENST00000690208.1:c.*1601+144_*1601+145insAA	ENSP00000510746.1:n.*1601+144_*1601+145insAA
ENST00000690785.1:n.1942+144_1942+145insAA
ENST00000691339.1:c.*1546+144_*1546+145insAA	ENSP00000509953.1:n.*1546+144_*1546+145insAA
ENST00000691478.1:c.*2022+144_*2022+145insAA	ENSP00000509081.1:n.*2022+144_*2022+145insAA
ENST00000693554.1:c.1923+144_1923+145insAA	ENSP00000509030.1:n.1923+144_1923+145insAA
ENST00000264158.13:c.1923+144_1923+145insAA MANE Select	ENSP00000264158.8:n.1923+144_1923+145insAA
ENST00000264158.12:c.1923+144_1923+145insAA	ENSP00000264158.7:n.1923+144_1923+145insAA
ENST00000442034.5:c.1923+144_1923+145insAA	ENSP00000411418.1:n.1923+144_1923+145insAA
ENST00000487003.5:n.1992+144_1992+145insAA
ENST00000539493.2:c.1791+144_1791+145insAA	ENSP00000444306.1:n.1791+144_1791+145insAA
NM_001172435.1:c.1923+144_1923+145insAA	NP_001165906.1:n.1923+144_1923+145insAA
NM_012233.2:c.1923+144_1923+145insAA	NP_036365.1:n.1923+144_1923+145insAA
XM_011510822.1:c.1923+144_1923+145insAA	XP_011509124.1:n.1923+144_1923+145insAA
XM_011510823.1:c.1923+144_1923+145insAA	XP_011509125.1:n.1923+144_1923+145insAA
XM_011510824.1:c.1923+144_1923+145insAA	XP_011509126.1:n.1923+144_1923+145insAA
XM_011510825.1:c.1923+144_1923+145insAA	XP_011509127.1:n.1923+144_1923+145insAA
XM_011510823.3:c.1923+144_1923+145insAA	XP_011509125.1:n.1923+144_1923+145insAA
XM_011510825.3:c.1923+144_1923+145insAA	XP_011509127.1:n.1923+144_1923+145insAA
XR_001738674.2:n.1950+144_1950+145insAA
NM_001172435.2:c.1923+144_1923+145insAA	NP_001165906.1:n.1923+144_1923+145insAA
NM_012233.3:c.1923+144_1923+145insAA MANE Select	NP_036365.1:n.1923+144_1923+145insAA