Canonical Allele Identifier: CA1036759596

Gene: RAB3GAP1

Linked Data

• dbSNP Id: rs764464372
• gnomAD v3: 2-135135761-A-AT
• gnomAD v4: 2-135135761-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135767dup , CM000664.2:g.135135767dup	GRCh38
NC_000002.11:g.135893337dup , CM000664.1:g.135893337dup	GRCh37
NC_000002.10:g.135609807dup	NCBI36
NG_016972.1:g.88503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1758dup	ENSP00000444306.2:p.Glu587Ter
ENST00000685967.1:c.*1215dup	ENSP00000508423.1:n.*1215dup
ENST00000686114.1:n.2104dup
ENST00000687199.1:c.*1826dup	ENSP00000510319.1:n.*1826dup
ENST00000688088.1:n.1777dup
ENST00000688182.1:c.151-31926dup	ENSP00000509324.1:n.151-31926dup
ENST00000689880.1:n.1777dup
ENST00000690208.1:c.*1436dup	ENSP00000510746.1:n.*1436dup
ENST00000690785.1:n.1777dup
ENST00000691339.1:c.*1381dup	ENSP00000509953.1:n.*1381dup
ENST00000691478.1:c.*1857dup	ENSP00000509081.1:n.*1857dup
ENST00000693554.1:c.1758dup	ENSP00000509030.1:p.Glu587Ter
ENST00000264158.13:c.1758dup MANE Select	ENSP00000264158.8:p.Glu587Ter
ENST00000264158.12:c.1758dup	ENSP00000264158.7:p.Glu587Ter
ENST00000442034.5:c.1758dup	ENSP00000411418.1:p.Glu587Ter
ENST00000487003.5:n.1827dup
ENST00000539493.2:c.1626dup	ENSP00000444306.1:p.Glu543Ter
NM_001172435.1:c.1758dup	NP_001165906.1:p.Glu587Ter
NM_012233.2:c.1758dup	NP_036365.1:p.Glu587Ter
XM_011510822.1:c.1758dup	XP_011509124.1:p.Glu587Ter
XM_011510823.1:c.1758dup	XP_011509125.1:p.Glu587Ter
XM_011510824.1:c.1758dup	XP_011509126.1:p.Glu587Ter
XM_011510825.1:c.1758dup	XP_011509127.1:p.Glu587Ter
XM_011510823.3:c.1758dup	XP_011509125.1:p.Glu587Ter
XM_011510825.3:c.1758dup	XP_011509127.1:p.Glu587Ter
XR_001738674.2:n.1785dup
NM_001172435.2:c.1758dup	NP_001165906.1:p.Glu587Ter
NM_012233.3:c.1758dup MANE Select	NP_036365.1:p.Glu587Ter