Canonical Allele Identifier: CA536547106

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs1445726511
• gnomAD v2: 2-135893665-GTGGGCAGA-G
• gnomAD v3: 2-135136095-GTGGGCAGA-G
• gnomAD v4: 2-135136095-GTGGGCAGA-G
• MyVariant Identifiers: chr2:g.135893666_135893673del (hg19) ; chr2:g.135136096_135136103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135136097_135136104del , CM000664.2:g.135136097_135136104del	GRCh38
NC_000002.11:g.135893667_135893674del , CM000664.1:g.135893667_135893674del	GRCh37
NC_000002.10:g.135610137_135610144del	NCBI36
NG_016972.1:g.88833_88840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1923+165_1923+172del	ENSP00000444306.2:n.1923+165_1923+172del
ENST00000685967.1:c.*1380+165_*1380+172del	ENSP00000508423.1:n.*1380+165_*1380+172del
ENST00000686114.1:n.2269+165_2269+172del
ENST00000687199.1:c.*1991+165_*1991+172del	ENSP00000510319.1:n.*1991+165_*1991+172del
ENST00000688088.1:n.1942+165_1942+172del
ENST00000688182.1:c.151-31596_151-31589del	ENSP00000509324.1:n.151-31596_151-31589del
ENST00000689880.1:n.1942+165_1942+172del
ENST00000690208.1:c.*1601+165_*1601+172del	ENSP00000510746.1:n.*1601+165_*1601+172del
ENST00000690785.1:n.1942+165_1942+172del
ENST00000691339.1:c.*1546+165_*1546+172del	ENSP00000509953.1:n.*1546+165_*1546+172del
ENST00000691478.1:c.*2022+165_*2022+172del	ENSP00000509081.1:n.*2022+165_*2022+172del
ENST00000693554.1:c.1923+165_1923+172del	ENSP00000509030.1:n.1923+165_1923+172del
ENST00000264158.13:c.1923+165_1923+172del MANE Select	ENSP00000264158.8:n.1923+165_1923+172del
ENST00000264158.12:c.1923+165_1923+172del	ENSP00000264158.7:n.1923+165_1923+172del
ENST00000442034.5:c.1923+165_1923+172del	ENSP00000411418.1:n.1923+165_1923+172del
ENST00000487003.5:n.1992+165_1992+172del
ENST00000539493.2:c.1791+165_1791+172del	ENSP00000444306.1:n.1791+165_1791+172del
NM_001172435.1:c.1923+165_1923+172del	NP_001165906.1:n.1923+165_1923+172del
NM_012233.2:c.1923+165_1923+172del	NP_036365.1:n.1923+165_1923+172del
XM_011510822.1:c.1923+165_1923+172del	XP_011509124.1:n.1923+165_1923+172del
XM_011510823.1:c.1923+165_1923+172del	XP_011509125.1:n.1923+165_1923+172del
XM_011510824.1:c.1923+165_1923+172del	XP_011509126.1:n.1923+165_1923+172del
XM_011510825.1:c.1923+165_1923+172del	XP_011509127.1:n.1923+165_1923+172del
XM_011510823.3:c.1923+165_1923+172del	XP_011509125.1:n.1923+165_1923+172del
XM_011510825.3:c.1923+165_1923+172del	XP_011509127.1:n.1923+165_1923+172del
XR_001738674.2:n.1950+165_1950+172del
NM_001172435.2:c.1923+165_1923+172del	NP_001165906.1:n.1923+165_1923+172del
NM_012233.3:c.1923+165_1923+172del MANE Select	NP_036365.1:n.1923+165_1923+172del