Canonical Allele Identifier: CA1087691691
Gene: ITPR3 HGNC NCBI

Linked Data

gnomAD v3: 6-33650268-GTGT-G
gnomAD v4: 6-33650268-GTGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33650269_33650271del , CM000668.2:g.33650269_33650271del GRCh38
NC_000006.11:g.33618046_33618048del , CM000668.1:g.33618046_33618048del GRCh37
NC_000006.10:g.33726024_33726026del NCBI36
NG_027729.1:g.33891_33893del

Transcript Alleles

HGVS Amino-acid change
ENST00000605930.3:c.161-5497_161-5495del MANE Select ENSP00000475177.1:n.161-5497_161-5495del
ENST00000374316.9:c.161-5497_161-5495del ENSP00000363435.4:n.161-5497_161-5495del
ENST00000605930.2:c.161-5497_161-5495del ENSP00000475177.1:n.161-5497_161-5495del
NM_002224.3:c.161-5497_161-5495del NP_002215.2:n.161-5497_161-5495del
XM_011514576.1:c.230-5497_230-5495del XP_011512878.1:n.230-5497_230-5495del
XM_017010832.1:c.161-5497_161-5495del XP_016866321.1:n.161-5497_161-5495del
NM_002224.4:c.161-5497_161-5495del MANE Select NP_002215.2:n.161-5497_161-5495del
Search 100 bp 5'
Search 100 bp 3'