Canonical Allele Identifier: CA2971300265

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135132899del , CM000664.2:g.135132899del	GRCh38
NC_000002.11:g.135890469del , CM000664.1:g.135890469del	GRCh37
NC_000002.10:g.135606939del	NCBI36
NG_016972.1:g.85635del

Transcript Alleles

HGVS	Amino-acid Change
NM_012233.3:c.1241del MANE Select	NP_036365.1:p.Leu414TyrfsTer11
ENST00000264158.13:c.1241del MANE Select	ENSP00000264158.8:p.Leu414TyrfsTer11
NM_001172435.1:c.1241del	NP_001165906.1:p.Leu414TyrfsTer11
NM_001172435.2:c.1241del	NP_001165906.1:p.Leu414TyrfsTer11
NM_012233.2:c.1241del	NP_036365.1:p.Leu414TyrfsTer11
ENST00000264158.12:c.1241del	ENSP00000264158.7:p.Leu414TyrfsTer11
ENST00000442034.5:c.1241del	ENSP00000411418.1:p.Leu414TyrfsTer11
ENST00000487003.5:n.1310del
ENST00000539493.2:c.1109del	ENSP00000444306.1:p.Leu370TyrfsTer11
ENST00000539493.3:c.1241del	ENSP00000444306.2:p.Leu414TyrfsTer11
ENST00000685967.1:c.*698del	ENSP00000508423.1:n.*698del
ENST00000686114.1:n.1587del
ENST00000687199.1:c.*1309del	ENSP00000510319.1:n.*1309del
ENST00000688088.1:n.1260del
ENST00000688182.1:c.151-34794del	ENSP00000509324.1:n.151-34794del
ENST00000689880.1:n.1260del
ENST00000690208.1:c.*919del	ENSP00000510746.1:n.*919del
ENST00000690785.1:n.1260del
ENST00000691339.1:c.*864del	ENSP00000509953.1:n.*864del
ENST00000691478.1:c.*1340del	ENSP00000509081.1:n.*1340del
ENST00000693554.1:c.1241del	ENSP00000509030.1:p.Leu414TyrfsTer11
XM_011510822.1:c.1241del	XP_011509124.1:p.Leu414TyrfsTer11
XM_011510823.1:c.1241del	XP_011509125.1:p.Leu414TyrfsTer11
XM_011510823.3:c.1241del	XP_011509125.1:p.Leu414TyrfsTer11
XM_011510824.1:c.1241del	XP_011509126.1:p.Leu414TyrfsTer11
XM_011510825.1:c.1241del	XP_011509127.1:p.Leu414TyrfsTer11
XM_011510825.3:c.1241del	XP_011509127.1:p.Leu414TyrfsTer11
XR_001738674.2:n.1268del