Canonical Allele Identifier: CA2678292847
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v4: 6-33669006-ACGAGTACCTGAGCAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33669014_33669028del , CM000668.2:g.33669014_33669028del GRCh38
NC_000006.11:g.33636791_33636805del , CM000668.1:g.33636791_33636805del GRCh37
NC_000006.10:g.33744769_33744783del NCBI36
NG_027729.1:g.52636_52650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.2047_2061del MANE Select ENSP00000475177.1:p.Leu683_Tyr687del
ENST00000374316.9:c.2047_2061del ENSP00000363435.4:p.Leu683_Tyr687del
ENST00000605930.2:c.2047_2061del ENSP00000475177.1:p.Leu683_Tyr687del
NM_002224.3:c.2047_2061del NP_002215.2:p.Leu683_Tyr687del
XM_011514576.1:c.2116_2130del XP_011512878.1:p.Leu706_Tyr710del
XM_011514577.1:c.1864_1878del XP_011512879.1:p.Leu622_Tyr626del
XM_011514577.3:c.1864_1878del XP_011512879.1:p.Leu622_Tyr626del
XM_017010832.1:c.2047_2061del XP_016866321.1:p.Leu683_Tyr687del
NM_002224.4:c.2047_2061del MANE Select NP_002215.2:p.Leu683_Tyr687del
Search 100 bp 5'
Search 100 bp 3'