Canonical Allele Identifier: CA1620116761
Gene: ITPR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669064_33669065delinsGA , CM000668.2:g.33669064_33669065delinsGA GRCh38
NC_000006.11:g.33636841_33636842delinsGA , CM000668.1:g.33636841_33636842delinsGA GRCh37
NC_000006.10:g.33744819_33744820delinsGA NCBI36
NG_027729.1:g.52686_52687delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2097_2098delinsGA MANE Select ENSP00000475177.1:p.Lys699=
ENST00000374316.9:c.2097_2098delinsGA ENSP00000363435.4:p.Lys699=
ENST00000605930.2:c.2097_2098delinsGA ENSP00000475177.1:p.Lys699=
NM_002224.3:c.2097_2098delinsGA NP_002215.2:p.Lys699=
XM_011514576.1:c.2166_2167delinsGA XP_011512878.1:p.Lys722=
XM_011514577.1:c.1914_1915delinsGA XP_011512879.1:p.Lys638=
XM_011514577.3:c.1914_1915delinsGA XP_011512879.1:p.Lys638=
XM_017010832.1:c.2097_2098delinsGA XP_016866321.1:p.Lys699=
NM_002224.4:c.2097_2098delinsGA MANE Select NP_002215.2:p.Lys699=