Allele Registry

Canonical Allele Identifier: CA213057

Gene: INPPL1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.72228379_72228383del

GRCh37 chr11:g.71939423_71939427del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000032674

ClinVar Variation:

39478

dbSNP:

797044469

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72228379_72228383del , CM000673.2:g.72228379_72228383del	GRCh38
NC_000011.9:g.71939423_71939427del , CM000673.1:g.71939423_71939427del	GRCh37
NC_000011.8:g.71617071_71617075del	NCBI36
NG_023253.1:g.8542_8546del
NG_023253.2:g.8542_8546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.278_282del MANE Select	ENSP00000298229.2:p.Gln93ProfsTer3
ENST00000298229.6:c.278_282del	ENSP00000298229.2:p.Gln93ProfsTer3
ENST00000538751.5:c.-449_-445del	ENSP00000444619.1:n.-449_-445del
ENST00000541544.1:n.194_198del
ENST00000541756.5:c.85_89del	ENSP00000446360.2:p.Arg29LeufsTer?
NM_001567.3:c.278_282del	NP_001558.3:p.Gln93ProfsTer3
XM_005273978.3:c.278_282del	XP_005274035.1:p.Gln93ProfsTer3
XM_005273979.3:c.278_282del	XP_005274036.1:p.Gln93ProfsTer3
XM_011544999.1:c.278_282del	XP_011543301.1:p.Gln93ProfsTer3
XM_011545000.1:c.278_282del	XP_011543302.1:p.Gln93ProfsTer3
XM_005273979.4:c.278_282del	XP_005274036.1:p.Gln93ProfsTer3
XM_011544999.2:c.278_282del	XP_011543301.1:p.Gln93ProfsTer3
XM_024448501.1:c.278_282del	XP_024304269.1:p.Gln93ProfsTer3
XM_024448502.1:c.278_282del	XP_024304270.1:p.Gln93ProfsTer3
XM_024448503.1:c.248_252del	XP_024304271.1:p.Gln83ProfsTer3
XM_024448504.1:c.278_282del	XP_024304272.1:p.Gln93ProfsTer3
XM_024448505.1:c.278_282del	XP_024304273.1:p.Gln93ProfsTer3
NM_001567.4:c.278_282del MANE Select	NP_001558.3:p.Gln93ProfsTer3

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