Canonical Allele Identifier: CA1087692451
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v3: 6-33669107-G-GTGT
gnomAD v4: 6-33669107-G-GTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669107_33669108insTGT , CM000668.2:g.33669107_33669108insTGT GRCh38
NC_000006.11:g.33636884_33636885insTGT , CM000668.1:g.33636884_33636885insTGT GRCh37
NC_000006.10:g.33744862_33744863insTGT NCBI36
NG_027729.1:g.52729_52730insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2140_2141insTGT MANE Select ENSP00000475177.1:p.Glu714ValfsTer2
ENST00000374316.9:c.2140_2141insTGT ENSP00000363435.4:p.Glu714ValfsTer2
ENST00000605930.2:c.2140_2141insTGT ENSP00000475177.1:p.Glu714ValfsTer2
NM_002224.3:c.2140_2141insTGT NP_002215.2:p.Glu714ValfsTer2
XM_011514576.1:c.2209_2210insTGT XP_011512878.1:p.Glu737ValfsTer2
XM_011514577.1:c.1957_1958insTGT XP_011512879.1:p.Glu653ValfsTer2
XM_011514577.3:c.1957_1958insTGT XP_011512879.1:p.Glu653ValfsTer2
XM_017010832.1:c.2140_2141insTGT XP_016866321.1:p.Glu714ValfsTer2
NM_002224.4:c.2140_2141insTGT MANE Select NP_002215.2:p.Glu714ValfsTer2
Search 100 bp 5'
Search 100 bp 3'