Canonical Allele Identifier: CA2678292690

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33668847-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33668850_33668851del , CM000668.2:g.33668850_33668851del	GRCh38
NC_000006.11:g.33636627_33636628del , CM000668.1:g.33636627_33636628del	GRCh37
NC_000006.10:g.33744605_33744606del	NCBI36
NG_027729.1:g.52472_52473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2007-124_2007-123del MANE Select	ENSP00000475177.1:n.2007-124_2007-123del
ENST00000374316.9:c.2007-124_2007-123del	ENSP00000363435.4:n.2007-124_2007-123del
ENST00000605930.2:c.2007-124_2007-123del	ENSP00000475177.1:n.2007-124_2007-123del
NM_002224.3:c.2007-124_2007-123del	NP_002215.2:n.2007-124_2007-123del
XM_011514576.1:c.2076-124_2076-123del	XP_011512878.1:n.2076-124_2076-123del
XM_011514577.1:c.1824-124_1824-123del	XP_011512879.1:n.1824-124_1824-123del
XM_011514577.3:c.1824-124_1824-123del	XP_011512879.1:n.1824-124_1824-123del
XM_017010832.1:c.2007-124_2007-123del	XP_016866321.1:n.2007-124_2007-123del
NM_002224.4:c.2007-124_2007-123del MANE Select	NP_002215.2:n.2007-124_2007-123del