Canonical Allele Identifier: CA1087692444

Gene: ITPR3

Linked Data

• gnomAD v3: 6-33669097-G-GT
• gnomAD v4: 6-33669097-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669097_33669098insT , CM000668.2:g.33669097_33669098insT	GRCh38
NC_000006.11:g.33636874_33636875insT , CM000668.1:g.33636874_33636875insT	GRCh37
NC_000006.10:g.33744852_33744853insT	NCBI36
NG_027729.1:g.52719_52720insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2130_2131insT MANE Select	ENSP00000475177.1:p.Leu711SerfsTer?
ENST00000374316.9:c.2130_2131insT	ENSP00000363435.4:p.Leu711SerfsTer?
ENST00000605930.2:c.2130_2131insT	ENSP00000475177.1:p.Leu711SerfsTer?
NM_002224.3:c.2130_2131insT	NP_002215.2:p.Leu711SerfsTer?
XM_011514576.1:c.2199_2200insT	XP_011512878.1:p.Leu734SerfsTer?
XM_011514577.1:c.1947_1948insT	XP_011512879.1:p.Leu650SerfsTer?
XM_011514577.3:c.1947_1948insT	XP_011512879.1:p.Leu650SerfsTer?
XM_017010832.1:c.2130_2131insT	XP_016866321.1:p.Leu711SerfsTer?
NM_002224.4:c.2130_2131insT MANE Select	NP_002215.2:p.Leu711SerfsTer?