Canonical Allele Identifier: CA1620116781

Gene: ITPR3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669111_33669135delinsCGCGGGCCGGCAACGCCCACGACGA , CM000668.2:g.33669111_33669135delinsCGCGGGCCGGCAACGCCCACGACGA	GRCh38
NC_000006.11:g.33636888_33636912delinsCGCGGGCCGGCAACGCCCACGACGA , CM000668.1:g.33636888_33636912delinsCGCGGGCCGGCAACGCCCACGACGA	GRCh37
NC_000006.10:g.33744866_33744890delinsCGCGGGCCGGCAACGCCCACGACGA	NCBI36
NG_027729.1:g.52733_52757delinsCGCGGGCCGGCAACGCCCACGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA MANE Select	ENSP00000475177.1:p.Ala715=
ENST00000374316.9:c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA	ENSP00000363435.4:p.Ala715=
ENST00000605930.2:c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA	ENSP00000475177.1:p.Ala715=
NM_002224.3:c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA	NP_002215.2:p.Ala715=
XM_011514576.1:c.2213_2237delinsCGCGGGCCGGCAACGCCCACGACGA	XP_011512878.1:p.Ala738=
XM_011514577.1:c.1961_1985delinsCGCGGGCCGGCAACGCCCACGACGA	XP_011512879.1:p.Ala654=
XM_011514577.3:c.1961_1985delinsCGCGGGCCGGCAACGCCCACGACGA	XP_011512879.1:p.Ala654=
XM_017010832.1:c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA	XP_016866321.1:p.Ala715=
NM_002224.4:c.2144_2168delinsCGCGGGCCGGCAACGCCCACGACGA MANE Select	NP_002215.2:p.Ala715=