Canonical Allele Identifier: CA1087692443

Gene: ITPR3

Linked Data

• gnomAD v3: 6-33669093-GGC-G
• gnomAD v4: 6-33669093-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669094_33669095del , CM000668.2:g.33669094_33669095del	GRCh38
NC_000006.11:g.33636871_33636872del , CM000668.1:g.33636871_33636872del	GRCh37
NC_000006.10:g.33744849_33744850del	NCBI36
NG_027729.1:g.52716_52717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2127_2128del MANE Select	ENSP00000475177.1:p.Gln710AlafsTer?
ENST00000374316.9:c.2127_2128del	ENSP00000363435.4:p.Gln710AlafsTer?
ENST00000605930.2:c.2127_2128del	ENSP00000475177.1:p.Gln710AlafsTer?
NM_002224.3:c.2127_2128del	NP_002215.2:p.Gln710AlafsTer?
XM_011514576.1:c.2196_2197del	XP_011512878.1:p.Gln733AlafsTer?
XM_011514577.1:c.1944_1945del	XP_011512879.1:p.Gln649AlafsTer?
XM_011514577.3:c.1944_1945del	XP_011512879.1:p.Gln649AlafsTer?
XM_017010832.1:c.2127_2128del	XP_016866321.1:p.Gln710AlafsTer?
NM_002224.4:c.2127_2128del MANE Select	NP_002215.2:p.Gln710AlafsTer?