Canonical Allele Identifier: CA2578586517
Gene: ITPR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33668894_33668895del , CM000668.2:g.33668894_33668895del GRCh38
NC_000006.11:g.33636671_33636672del , CM000668.1:g.33636671_33636672del GRCh37
NC_000006.10:g.33744649_33744650del NCBI36
NG_027729.1:g.52516_52517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2007-80_2007-79del MANE Select ENSP00000475177.1:n.2007-80_2007-79del
ENST00000374316.9:c.2007-80_2007-79del ENSP00000363435.4:n.2007-80_2007-79del
ENST00000605930.2:c.2007-80_2007-79del ENSP00000475177.1:n.2007-80_2007-79del
NM_002224.3:c.2007-80_2007-79del NP_002215.2:n.2007-80_2007-79del
XM_011514576.1:c.2076-80_2076-79del XP_011512878.1:n.2076-80_2076-79del
XM_011514577.1:c.1824-80_1824-79del XP_011512879.1:n.1824-80_1824-79del
XM_011514577.3:c.1824-80_1824-79del XP_011512879.1:n.1824-80_1824-79del
XM_017010832.1:c.2007-80_2007-79del XP_016866321.1:n.2007-80_2007-79del
NM_002224.4:c.2007-80_2007-79del MANE Select NP_002215.2:n.2007-80_2007-79del