Canonical Allele Identifier: CA1087691692

Gene: ITPR3

Linked Data

• dbSNP Id: rs1764156243
• gnomAD v3: 6-33650269-TG-T
• gnomAD v4: 6-33650269-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33650270del , CM000668.2:g.33650270del	GRCh38
NC_000006.11:g.33618047del , CM000668.1:g.33618047del	GRCh37
NC_000006.10:g.33726025del	NCBI36
NG_027729.1:g.33892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.161-5496del MANE Select	ENSP00000475177.1:n.161-5496del
ENST00000374316.9:c.161-5496del	ENSP00000363435.4:n.161-5496del
ENST00000605930.2:c.161-5496del	ENSP00000475177.1:n.161-5496del
NM_002224.3:c.161-5496del	NP_002215.2:n.161-5496del
XM_011514576.1:c.230-5496del	XP_011512878.1:n.230-5496del
XM_017010832.1:c.161-5496del	XP_016866321.1:n.161-5496del
NM_002224.4:c.161-5496del MANE Select	NP_002215.2:n.161-5496del