Canonical Allele Identifier: CA1087692445

Gene: ITPR3

Linked Data

• gnomAD v3: 6-33669098-CTGGCCCA-C
• gnomAD v4: 6-33669098-CTGGCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669099_33669105del , CM000668.2:g.33669099_33669105del	GRCh38
NC_000006.11:g.33636876_33636882del , CM000668.1:g.33636876_33636882del	GRCh37
NC_000006.10:g.33744854_33744860del	NCBI36
NG_027729.1:g.52721_52727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2132_2138del MANE Select	ENSP00000475177.1:p.Leu711ArgfsTer21
ENST00000374316.9:c.2132_2138del	ENSP00000363435.4:p.Leu711ArgfsTer21
ENST00000605930.2:c.2132_2138del	ENSP00000475177.1:p.Leu711ArgfsTer21
NM_002224.3:c.2132_2138del	NP_002215.2:p.Leu711ArgfsTer21
XM_011514576.1:c.2201_2207del	XP_011512878.1:p.Leu734ArgfsTer21
XM_011514577.1:c.1949_1955del	XP_011512879.1:p.Leu650ArgfsTer21
XM_011514577.3:c.1949_1955del	XP_011512879.1:p.Leu650ArgfsTer21
XM_017010832.1:c.2132_2138del	XP_016866321.1:p.Leu711ArgfsTer21
NM_002224.4:c.2132_2138del MANE Select	NP_002215.2:p.Leu711ArgfsTer21