Canonical Allele Identifier: CA1424231

Gene: ITPKB

Linked Data

• ClinVar Variation Id: 1705896
• ClinVar RCV Id: RCV002284270
• dbSNP Id: rs147889095
• ExAC: 1:226924875 ACTGCCGCTG / A
• gnomAD v2: 1-226924875-ACTGCCGCTG-A
• gnomAD v3: 1-226737174-ACTGCCGCTG-A
• gnomAD v4: 1-226737174-ACTGCCGCTG-A
• COSMIC: COSM904768 ; COSM4168357 ; COSM5445763 ; COSM5445764
• MyVariant Identifiers: chr1:g.226924876_226924884del (hg19) ; chr1:g.226737176_226737184del (hg38) ; chr1:g.226737175_226737183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226737185_226737193del , CM000663.2:g.226737185_226737193del	GRCh38
NC_000001.10:g.226924886_226924894del , CM000663.1:g.226924886_226924894del	GRCh37
NC_000001.9:g.224991509_224991517del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272117.8:c.276_284del	ENSP00000272117.3:p.Ser93_Ser95del
ENST00000429204.6:c.276_284del MANE Select	ENSP00000411152.1:p.Ser93_Ser95del
ENST00000272117.7:c.276_284del	ENSP00000272117.3:p.Ser93_Ser95del
ENST00000366784.1:c.276_284del	ENSP00000355748.1:p.Ser93_Ser95del
ENST00000429204.5:c.276_284del	ENSP00000411152.1:p.Ser93_Ser95del
NM_002221.3:c.276_284del	NP_002212.3:p.Ser93_Ser95del
XM_005273120.1:c.276_284del	XP_005273177.1:p.Ser93_Ser95del
XM_005273120.3:c.276_284del	XP_005273177.1:p.Ser93_Ser95del
XM_017001211.2:c.276_284del	XP_016856700.1:p.Ser93_Ser95del
NM_001388404.1:c.276_284del	NP_001375333.1:p.Ser93_Ser95del
NM_002221.4:c.276_284del MANE Select	NP_002212.3:p.Ser93_Ser95del