Canonical Allele Identifier: CA1087692471
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v3: 6-33669115-G-GTGGTC
gnomAD v4: 6-33669115-G-GTGGTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669115_33669116insTGGTC , CM000668.2:g.33669115_33669116insTGGTC GRCh38
NC_000006.11:g.33636892_33636893insTGGTC , CM000668.1:g.33636892_33636893insTGGTC GRCh37
NC_000006.10:g.33744870_33744871insTGGTC NCBI36
NG_027729.1:g.52737_52738insTGGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2148_2149insTGGTC MANE Select ENSP00000475177.1:p.Ala717TrpfsTer19
ENST00000374316.9:c.2148_2149insTGGTC ENSP00000363435.4:p.Ala717TrpfsTer19
ENST00000605930.2:c.2148_2149insTGGTC ENSP00000475177.1:p.Ala717TrpfsTer19
NM_002224.3:c.2148_2149insTGGTC NP_002215.2:p.Ala717TrpfsTer19
XM_011514576.1:c.2217_2218insTGGTC XP_011512878.1:p.Ala740TrpfsTer19
XM_011514577.1:c.1965_1966insTGGTC XP_011512879.1:p.Ala656TrpfsTer19
XM_011514577.3:c.1965_1966insTGGTC XP_011512879.1:p.Ala656TrpfsTer19
XM_017010832.1:c.2148_2149insTGGTC XP_016866321.1:p.Ala717TrpfsTer19
NM_002224.4:c.2148_2149insTGGTC MANE Select NP_002215.2:p.Ala717TrpfsTer19
Search 100 bp 5'
Search 100 bp 3'