Canonical Allele Identifier: CA2678292928

Gene: ITPR3

Linked Data

• gnomAD v4: 6-33669079-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33669080_33669082del , CM000668.2:g.33669080_33669082del	GRCh38
NC_000006.11:g.33636857_33636859del , CM000668.1:g.33636857_33636859del	GRCh37
NC_000006.10:g.33744835_33744837del	NCBI36
NG_027729.1:g.52702_52704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000605930.3:c.2113_2115del MANE Select	ENSP00000475177.1:p.Glu705del
ENST00000374316.9:c.2113_2115del	ENSP00000363435.4:p.Glu705del
ENST00000605930.2:c.2113_2115del	ENSP00000475177.1:p.Glu705del
NM_002224.3:c.2113_2115del	NP_002215.2:p.Glu705del
XM_011514576.1:c.2182_2184del	XP_011512878.1:p.Glu728del
XM_011514577.1:c.1930_1932del	XP_011512879.1:p.Glu644del
XM_011514577.3:c.1930_1932del	XP_011512879.1:p.Glu644del
XM_017010832.1:c.2113_2115del	XP_016866321.1:p.Glu705del
NM_002224.4:c.2113_2115del MANE Select	NP_002215.2:p.Glu705del