Canonical Allele Identifier: CA1290527799

Gene: RAB3GAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135135692_135135696delinsAAAAG , CM000664.2:g.135135692_135135696delinsAAAAG	GRCh38
NC_000002.11:g.135893262_135893266delinsAAAAG , CM000664.1:g.135893262_135893266delinsAAAAG	GRCh37
NC_000002.10:g.135609732_135609736delinsAAAAG	NCBI36
NG_016972.1:g.88428_88432delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.1683_1687delinsAAAAG	ENSP00000444306.2:p.Leu561=
ENST00000685967.1:c.*1140_*1144delinsAAAAG	ENSP00000508423.1:n.*1140_*1144delinsAAAAG
ENST00000686114.1:n.2029_2033delinsAAAAG
ENST00000687199.1:c.*1751_*1755delinsAAAAG	ENSP00000510319.1:n.*1751_*1755delinsAAAAG
ENST00000688088.1:n.1702_1706delinsAAAAG
ENST00000688182.1:c.151-32001_151-31997delinsAAAAG	ENSP00000509324.1:n.151-32001_151-31997delinsAAAAG
ENST00000689880.1:n.1702_1706delinsAAAAG
ENST00000690208.1:c.*1361_*1365delinsAAAAG	ENSP00000510746.1:n.*1361_*1365delinsAAAAG
ENST00000690785.1:n.1702_1706delinsAAAAG
ENST00000691339.1:c.*1306_*1310delinsAAAAG	ENSP00000509953.1:n.*1306_*1310delinsAAAAG
ENST00000691478.1:c.*1782_*1786delinsAAAAG	ENSP00000509081.1:n.*1782_*1786delinsAAAAG
ENST00000693554.1:c.1683_1687delinsAAAAG	ENSP00000509030.1:p.Leu561=
ENST00000264158.13:c.1683_1687delinsAAAAG MANE Select	ENSP00000264158.8:p.Leu561=
ENST00000264158.12:c.1683_1687delinsAAAAG	ENSP00000264158.7:p.Leu561=
ENST00000442034.5:c.1683_1687delinsAAAAG	ENSP00000411418.1:p.Leu561=
ENST00000487003.5:n.1752_1756delinsAAAAG
ENST00000539493.2:c.1551_1555delinsAAAAG	ENSP00000444306.1:p.Leu517=
NM_001172435.1:c.1683_1687delinsAAAAG	NP_001165906.1:p.Leu561=
NM_012233.2:c.1683_1687delinsAAAAG	NP_036365.1:p.Leu561=
XM_011510822.1:c.1683_1687delinsAAAAG	XP_011509124.1:p.Leu561=
XM_011510823.1:c.1683_1687delinsAAAAG	XP_011509125.1:p.Leu561=
XM_011510824.1:c.1683_1687delinsAAAAG	XP_011509126.1:p.Leu561=
XM_011510825.1:c.1683_1687delinsAAAAG	XP_011509127.1:p.Leu561=
XM_011510823.3:c.1683_1687delinsAAAAG	XP_011509125.1:p.Leu561=
XM_011510825.3:c.1683_1687delinsAAAAG	XP_011509127.1:p.Leu561=
XR_001738674.2:n.1710_1714delinsAAAAG
NM_001172435.2:c.1683_1687delinsAAAAG	NP_001165906.1:p.Leu561=
NM_012233.3:c.1683_1687delinsAAAAG MANE Select	NP_036365.1:p.Leu561=