Canonical Allele Identifier: CA824071460

Gene: ITPR3

Linked Data

• dbSNP Id: rs1243545626
• gnomAD v3: 6-33669111-CGCGGGCCGGCAACGCCCACGACGA-C
• gnomAD v4: 6-33669111-CGCGGGCCGGCAACGCCCACGACGA-C
• MyVariant Identifiers: chr6:g.33636889_33636912del (hg19) ; chr6:g.33669112_33669135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669113_33669136del , CM000668.2:g.33669113_33669136del	GRCh38
NC_000006.11:g.33636890_33636913del , CM000668.1:g.33636890_33636913del	GRCh37
NC_000006.10:g.33744868_33744891del	NCBI36
NG_027729.1:g.52735_52758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2146_2169del MANE Select	ENSP00000475177.1:p.Arg716_Glu723del
ENST00000374316.9:c.2146_2169del	ENSP00000363435.4:p.Arg716_Glu723del
ENST00000605930.2:c.2146_2169del	ENSP00000475177.1:p.Arg716_Glu723del
NM_002224.3:c.2146_2169del	NP_002215.2:p.Arg716_Glu723del
XM_011514576.1:c.2215_2238del	XP_011512878.1:p.Arg739_Glu746del
XM_011514577.1:c.1963_1986del	XP_011512879.1:p.Arg655_Glu662del
XM_011514577.3:c.1963_1986del	XP_011512879.1:p.Arg655_Glu662del
XM_017010832.1:c.2146_2169del	XP_016866321.1:p.Arg716_Glu723del
NM_002224.4:c.2146_2169del MANE Select	NP_002215.2:p.Arg716_Glu723del