Canonical Allele Identifier: CA10586478
Gene: NPRL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 254365
ClinVar RCV Id: RCV000241360
dbSNP Id: rs886037966
MyVariant Identifiers: chr3:g.50388015_50388016del (hg19) chr3:g.50350584_50350585del (hg38)
PubMed: PMID:27173016
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50350584_50350585del , CM000665.2:g.50350584_50350585del GRCh38
NC_000003.11:g.50388015_50388016del , CM000665.1:g.50388015_50388016del GRCh37
NC_000003.10:g.50363019_50363020del NCBI36
NG_042828.1:g.162_163del

Transcript Alleles

HGVS Amino-acid change
ENST00000232501.8:c.68_69del MANE Select ENSP00000232501.3:p.Ile23AsnfsTer6
ENST00000667046.1:c.68_69del ENSP00000499627.1:p.Ile23AsnfsTer6
ENST00000667631.1:n.225_226del
ENST00000671487.1:n.202_203del
ENST00000232501.7:c.68_69del ENSP00000232501.3:p.Ile23AsnfsTer6
ENST00000418825.5:c.68_69del ENSP00000396172.1:p.Ile23AsnfsTer6
ENST00000429366.5:c.68_69del ENSP00000412779.1:p.Ile23AsnfsTer6
ENST00000433381.5:c.68_69del ENSP00000388019.1:p.Ile23AsnfsTer6
ENST00000433999.5:c.68_69del ENSP00000415045.1:p.Ile23AsnfsTer6
ENST00000448302.1:c.68_69del ENSP00000389429.1:p.Ile23AsnfsTer6
ENST00000451194.5:c.68_69del ENSP00000388358.1:p.Ile23AsnfsTer6
ENST00000461020.5:n.198_199del
ENST00000467294.1:n.198_199del
ENST00000469839.1:n.191_192del
ENST00000476064.5:n.195_196del
ENST00000479512.5:n.182_183del
ENST00000487632.5:n.183_184del
ENST00000493907.1:n.237_238del
NM_006545.4:c.68_69del NP_006536.3:p.Ile23AsnfsTer6
XM_005264806.1:c.-105_-104del XP_005264863.1:n.-105_-104del
XM_005264808.3:c.-289_-288del XP_005264865.1:n.-289_-288del
XM_005264808.5:c.-289_-288del XP_005264865.1:n.-289_-288del
XM_017005555.1:c.-284_-283del XP_016861044.1:n.-284_-283del
XR_001739982.1:n.237_238del
NM_006545.5:c.68_69del MANE Select NP_006536.3:p.Ile23AsnfsTer6
Search 100 bp 5'
Search 100 bp 3'