Canonical Allele Identifier: CA679976948

Gene: INPPL1

Linked Data

• dbSNP Id: rs1247216210
• gnomAD v3: 11-72230419-AG-A
• gnomAD v4: 11-72230419-AG-A
• MyVariant Identifiers: chr11:g.71941464del (hg19) ; chr11:g.72230420del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72230421del , CM000673.2:g.72230421del	GRCh38
NC_000011.9:g.71941465del , CM000673.1:g.71941465del	GRCh37
NC_000011.8:g.71619113del	NCBI36
NG_023253.1:g.10584del
NG_023253.2:g.10584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.1150del MANE Select	ENSP00000298229.2:p.Glu384ArgfsTer28
ENST00000298229.6:c.1150del	ENSP00000298229.2:p.Glu384ArgfsTer28
ENST00000538751.5:c.424del	ENSP00000444619.1:p.Glu142ArgfsTer28
ENST00000540329.5:c.334del	ENSP00000440018.1:p.Glu112ArgfsTer?
ENST00000541756.5:c.952del	ENSP00000446360.2:p.Glu318ArgfsTer28
NM_001567.3:c.1150del	NP_001558.3:p.Glu384ArgfsTer28
XM_005273978.3:c.1216del	XP_005274035.1:p.Glu406ArgfsTer28
XM_005273979.3:c.1216del	XP_005274036.1:p.Glu406ArgfsTer28
XM_011544999.1:c.1150del	XP_011543301.1:p.Glu384ArgfsTer28
XM_011545000.1:c.1216del	XP_011543302.1:p.Glu406ArgfsTer28
XM_005273979.4:c.1216del	XP_005274036.1:p.Glu406ArgfsTer28
XM_011544999.2:c.1150del	XP_011543301.1:p.Glu384ArgfsTer28
XM_024448501.1:c.1216del	XP_024304269.1:p.Glu406ArgfsTer28
XM_024448502.1:c.1216del	XP_024304270.1:p.Glu406ArgfsTer28
XM_024448503.1:c.1186del	XP_024304271.1:p.Glu396ArgfsTer28
XM_024448504.1:c.1150del	XP_024304272.1:p.Glu384ArgfsTer28
XM_024448505.1:c.1216del	XP_024304273.1:p.Glu406ArgfsTer28
NM_001567.4:c.1150del MANE Select	NP_001558.3:p.Glu384ArgfsTer28