Canonical Allele Identifier: CA2678292998

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669117-CCGGCAACGCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669120_33669131del , CM000668.2:g.33669120_33669131del	GRCh38
NC_000006.11:g.33636897_33636908del , CM000668.1:g.33636897_33636908del	GRCh37
NC_000006.10:g.33744875_33744886del	NCBI36
NG_027729.1:g.52742_52753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2153_2164del MANE Select	ENSP00000475177.1:p.Gly718_His721del
ENST00000374316.9:c.2153_2164del	ENSP00000363435.4:p.Gly718_His721del
ENST00000605930.2:c.2153_2164del	ENSP00000475177.1:p.Gly718_His721del
NM_002224.3:c.2153_2164del	NP_002215.2:p.Gly718_His721del
XM_011514576.1:c.2222_2233del	XP_011512878.1:p.Gly741_His744del
XM_011514577.1:c.1970_1981del	XP_011512879.1:p.Gly657_His660del
XM_011514577.3:c.1970_1981del	XP_011512879.1:p.Gly657_His660del
XM_017010832.1:c.2153_2164del	XP_016866321.1:p.Gly718_His721del
NM_002224.4:c.2153_2164del MANE Select	NP_002215.2:p.Gly718_His721del