Canonical Allele Identifier: CA1087692454
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v3: 6-33669109-G-GA
gnomAD v4: 6-33669109-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669109_33669110insA , CM000668.2:g.33669109_33669110insA GRCh38
NC_000006.11:g.33636886_33636887insA , CM000668.1:g.33636886_33636887insA GRCh37
NC_000006.10:g.33744864_33744865insA NCBI36
NG_027729.1:g.52731_52732insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2142_2143insA MANE Select ENSP00000475177.1:p.Ala715SerfsTer?
ENST00000374316.9:c.2142_2143insA ENSP00000363435.4:p.Ala715SerfsTer?
ENST00000605930.2:c.2142_2143insA ENSP00000475177.1:p.Ala715SerfsTer?
NM_002224.3:c.2142_2143insA NP_002215.2:p.Ala715SerfsTer?
XM_011514576.1:c.2211_2212insA XP_011512878.1:p.Ala738SerfsTer?
XM_011514577.1:c.1959_1960insA XP_011512879.1:p.Ala654SerfsTer?
XM_011514577.3:c.1959_1960insA XP_011512879.1:p.Ala654SerfsTer?
XM_017010832.1:c.2142_2143insA XP_016866321.1:p.Ala715SerfsTer?
NM_002224.4:c.2142_2143insA MANE Select NP_002215.2:p.Ala715SerfsTer?
Search 100 bp 5'
Search 100 bp 3'