Canonical Allele Identifier: CA1087692481
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v3: 6-33669119-G-GTA
gnomAD v4: 6-33669119-G-GTA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669119_33669120insTA , CM000668.2:g.33669119_33669120insTA GRCh38
NC_000006.11:g.33636896_33636897insTA , CM000668.1:g.33636896_33636897insTA GRCh37
NC_000006.10:g.33744874_33744875insTA NCBI36
NG_027729.1:g.52741_52742insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2152_2153insTA MANE Select ENSP00000475177.1:p.Gly718ValfsTer17
ENST00000374316.9:c.2152_2153insTA ENSP00000363435.4:p.Gly718ValfsTer17
ENST00000605930.2:c.2152_2153insTA ENSP00000475177.1:p.Gly718ValfsTer17
NM_002224.3:c.2152_2153insTA NP_002215.2:p.Gly718ValfsTer17
XM_011514576.1:c.2221_2222insTA XP_011512878.1:p.Gly741ValfsTer17
XM_011514577.1:c.1969_1970insTA XP_011512879.1:p.Gly657ValfsTer17
XM_011514577.3:c.1969_1970insTA XP_011512879.1:p.Gly657ValfsTer17
XM_017010832.1:c.2152_2153insTA XP_016866321.1:p.Gly718ValfsTer17
NM_002224.4:c.2152_2153insTA MANE Select NP_002215.2:p.Gly718ValfsTer17
Search 100 bp 5'
Search 100 bp 3'