Canonical Allele Identifier: CA645555011

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 451128
• ClinVar RCV Id: RCV000522108 ; RCV001073383 ; RCV001853653 ; RCV003323588 ; RCV003596017
• dbSNP Id: rs779450345
• gnomAD v3: 9-136438946-AC-A
• gnomAD v4: 9-136438946-AC-A
• COSMIC: COSM3215442
• MyVariant Identifiers: chr9:g.139333399del (hg19) ; chr9:g.136438947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136438952del , CM000671.2:g.136438952del	GRCh38
NC_000009.11:g.139333404del , CM000671.1:g.139333404del	GRCh37
NC_000009.10:g.138453225del	NCBI36
NG_016126.1:g.5858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.473del MANE Select	ENSP00000360777.3:p.Gly158ValfsTer?
ENST00000635815.1:n.877del
ENST00000676019.1:c.473del	ENSP00000501984.1:p.Gly158ValfsTer?
ENST00000371712.3:c.473del	ENSP00000360777.3:p.Gly158ValfsTer?
NM_019892.4:c.473del	NP_063945.2:p.Gly158ValfsTer?
XM_005266094.2:c.473del	XP_005266151.1:p.Gly158ValfsTer?
XR_929828.1:n.913del
NM_001318502.1:c.473del	NP_001305431.1:p.Gly158ValfsTer?
NM_019892.5:c.473del	NP_063945.2:p.Gly158ValfsTer?
XM_017014926.1:c.473del	XP_016870415.1:p.Gly158ValfsTer?
XR_929828.2:n.915del
NM_019892.6:c.473del MANE Select	NP_063945.2:p.Gly158ValfsTer?
NM_001318502.2:c.473del	NP_001305431.1:p.Gly158ValfsTer?