Canonical Allele Identifier: CA2678292807

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33668947-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668950_33668951del , CM000668.2:g.33668950_33668951del	GRCh38
NC_000006.11:g.33636727_33636728del , CM000668.1:g.33636727_33636728del	GRCh37
NC_000006.10:g.33744705_33744706del	NCBI36
NG_027729.1:g.52572_52573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2007-24_2007-23del MANE Select	ENSP00000475177.1:n.2007-24_2007-23del
ENST00000374316.9:c.2007-24_2007-23del	ENSP00000363435.4:n.2007-24_2007-23del
ENST00000605930.2:c.2007-24_2007-23del	ENSP00000475177.1:n.2007-24_2007-23del
NM_002224.3:c.2007-24_2007-23del	NP_002215.2:n.2007-24_2007-23del
XM_011514576.1:c.2076-24_2076-23del	XP_011512878.1:n.2076-24_2076-23del
XM_011514577.1:c.1824-24_1824-23del	XP_011512879.1:n.1824-24_1824-23del
XM_011514577.3:c.1824-24_1824-23del	XP_011512879.1:n.1824-24_1824-23del
XM_017010832.1:c.2007-24_2007-23del	XP_016866321.1:n.2007-24_2007-23del
NM_002224.4:c.2007-24_2007-23del MANE Select	NP_002215.2:n.2007-24_2007-23del