Canonical Allele Identifier: CA2661248615

Gene: RAB3GAP1

Linked Data

• gnomAD v4: 2-135135608-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135613del , CM000664.2:g.135135613del	GRCh38
NC_000002.11:g.135893183del , CM000664.1:g.135893183del	GRCh37
NC_000002.10:g.135609653del	NCBI36
NG_016972.1:g.88349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1604del	ENSP00000444306.2:p.Lys535ArgfsTer27
ENST00000685967.1:c.*1061del	ENSP00000508423.1:n.*1061del
ENST00000686114.1:n.1950del
ENST00000687199.1:c.*1672del	ENSP00000510319.1:n.*1672del
ENST00000688088.1:n.1623del
ENST00000688182.1:c.151-32080del	ENSP00000509324.1:n.151-32080del
ENST00000689880.1:n.1623del
ENST00000690208.1:c.*1282del	ENSP00000510746.1:n.*1282del
ENST00000690785.1:n.1623del
ENST00000691339.1:c.*1227del	ENSP00000509953.1:n.*1227del
ENST00000691478.1:c.*1703del	ENSP00000509081.1:n.*1703del
ENST00000693554.1:c.1604del	ENSP00000509030.1:p.Lys535ArgfsTer27
ENST00000264158.13:c.1604del MANE Select	ENSP00000264158.8:p.Lys535ArgfsTer27
ENST00000264158.12:c.1604del	ENSP00000264158.7:p.Lys535ArgfsTer27
ENST00000442034.5:c.1604del	ENSP00000411418.1:p.Lys535ArgfsTer27
ENST00000487003.5:n.1673del
ENST00000539493.2:c.1472del	ENSP00000444306.1:p.Lys491ArgfsTer27
NM_001172435.1:c.1604del	NP_001165906.1:p.Lys535ArgfsTer27
NM_012233.2:c.1604del	NP_036365.1:p.Lys535ArgfsTer27
XM_011510822.1:c.1604del	XP_011509124.1:p.Lys535ArgfsTer27
XM_011510823.1:c.1604del	XP_011509125.1:p.Lys535ArgfsTer27
XM_011510824.1:c.1604del	XP_011509126.1:p.Lys535ArgfsTer27
XM_011510825.1:c.1604del	XP_011509127.1:p.Lys535ArgfsTer27
XM_011510823.3:c.1604del	XP_011509125.1:p.Lys535ArgfsTer27
XM_011510825.3:c.1604del	XP_011509127.1:p.Lys535ArgfsTer27
XR_001738674.2:n.1631del
NM_001172435.2:c.1604del	NP_001165906.1:p.Lys535ArgfsTer27
NM_012233.3:c.1604del MANE Select	NP_036365.1:p.Lys535ArgfsTer27