Canonical Allele Identifier: CA2678292922
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v4: 6-33669077-CATGAGAAGAGTGTGAGGCAGCTGGCCCAGGAGGCGCGGGCCGGCAACGCCCACGACGAGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669081_33669140del , CM000668.2:g.33669081_33669140del GRCh38
NC_000006.11:g.33636858_33636917del , CM000668.1:g.33636858_33636917del GRCh37
NC_000006.10:g.33744836_33744895del NCBI36
NG_027729.1:g.52703_52762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2114_2173del MANE Select ENSP00000475177.1:p.Glu705_Asn724del
ENST00000374316.9:c.2114_2173del ENSP00000363435.4:p.Glu705_Asn724del
ENST00000605930.2:c.2114_2173del ENSP00000475177.1:p.Glu705_Asn724del
NM_002224.3:c.2114_2173del NP_002215.2:p.Glu705_Asn724del
XM_011514576.1:c.2183_2242del XP_011512878.1:p.Glu728_Asn747del
XM_011514577.1:c.1931_1990del XP_011512879.1:p.Glu644_Asn663del
XM_011514577.3:c.1931_1990del XP_011512879.1:p.Glu644_Asn663del
XM_017010832.1:c.2114_2173del XP_016866321.1:p.Glu705_Asn724del
NM_002224.4:c.2114_2173del MANE Select NP_002215.2:p.Glu705_Asn724del
Search 100 bp 5'
Search 100 bp 3'