Canonical Allele Identifier: CA213058

Gene: INPPL1

Linked Data

• ClinVar Variation Id: 39481
• ClinVar RCV Id: RCV003727608
• dbSNP Id: rs797044470
• gnomAD v3: 11-72225070-CGGCCGCGGAGGAGCTGCTGGCCCGGGCG-C
• gnomAD v4: 11-72225070-CGGCCGCGGAGGAGCTGCTGGCCCGGGCG-C
• MyVariant Identifiers: chr11:g.71936122_71936149del (hg19) ; chr11:g.71936115_71936142del (hg19) ; chr11:g.72225078_72225105del (hg38) ; chr11:g.72225071_72225098del (hg38)
• PubMed: PMID:23273569

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72225078_72225105del , CM000673.2:g.72225078_72225105del	GRCh38
NC_000011.9:g.71936122_71936149del , CM000673.1:g.71936122_71936149del	GRCh37
NC_000011.8:g.71613770_71613797del	NCBI36
NG_023253.1:g.5241_5268del
NG_023253.2:g.5241_5268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298229.7:c.94_121del MANE Select	ENSP00000298229.2:p.Glu32MetfsTer?
ENST00000298229.6:c.94_121del	ENSP00000298229.2:p.Glu32MetfsTer?
ENST00000541544.1:n.10_37del
NM_001567.3:c.94_121del	NP_001558.3:p.Glu32MetfsTer?
XM_005273978.3:c.94_121del	XP_005274035.1:p.Glu32MetfsTer?
XM_005273979.3:c.94_121del	XP_005274036.1:p.Glu32MetfsTer?
XM_011544999.1:c.94_121del	XP_011543301.1:p.Glu32MetfsTer?
XM_011545000.1:c.94_121del	XP_011543302.1:p.Glu32MetfsTer?
XM_005273979.4:c.94_121del	XP_005274036.1:p.Glu32MetfsTer?
XM_011544999.2:c.94_121del	XP_011543301.1:p.Glu32MetfsTer?
XM_024448501.1:c.94_121del	XP_024304269.1:p.Glu32MetfsTer?
XM_024448502.1:c.94_121del	XP_024304270.1:p.Glu32MetfsTer?
XM_024448503.1:c.-28_-1del	XP_024304271.1:n.-28_-1del
XM_024448504.1:c.94_121del	XP_024304272.1:p.Glu32MetfsTer?
XM_024448505.1:c.94_121del	XP_024304273.1:p.Glu32MetfsTer?
NM_001567.4:c.94_121del MANE Select	NP_001558.3:p.Glu32MetfsTer?