Canonical Allele Identifier: CA913189285

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 594761
• ClinVar RCV Id: RCV000730125
• dbSNP Id: rs1557578607

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863993_5863999del , CM000663.2:g.5863993_5863999del	GRCh38
NC_000001.10:g.5924053_5924059del , CM000663.1:g.5924053_5924059del	GRCh37
NC_000001.9:g.5846640_5846646del	NCBI36
NG_011724.2:g.133473_133479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4031_4037del MANE Select	ENSP00000367398.4:p.Lys1344ThrfsTer?
ENST00000378156.8:c.4031_4037del	ENSP00000367398.4:p.Lys1344ThrfsTer?
ENST00000378161.5:n.3182_3188del
ENST00000378169.7:c.*2932_*2938del	ENSP00000367411.3:n.*2932_*2938del
ENST00000460696.1:n.2779_2785del
ENST00000478423.6:n.3763_3769del
ENST00000489180.6:c.*1842_*1848del	ENSP00000423747.1:n.*1842_*1848del
NM_001291593.1:c.2492_2498del	NP_001278522.1:p.Lys831ThrfsTer?
NM_001291594.1:c.2495_2501del	NP_001278523.1:p.Lys832ThrfsTer?
NM_015102.4:c.4031_4037del	NP_055917.1:p.Lys1344ThrfsTer?
NR_111987.1:n.4846_4852del
XM_006710563.2:c.4031_4037del	XP_006710626.1:p.Lys1344ThrfsTer?
XM_006710565.2:c.4031_4037del	XP_006710628.1:p.Lys1344ThrfsTer?
XM_011541213.1:c.4028_4034del	XP_011539515.1:p.Lys1343ThrfsTer?
XM_011541214.1:c.3989_3995del	XP_011539516.1:p.Lys1330ThrfsTer?
XM_011541215.1:c.3920_3926del	XP_011539517.1:p.Lys1307ThrfsTer?
XM_011541216.1:c.4031_4037del	XP_011539518.1:p.Lys1344ThrfsTer?
XM_011541217.1:c.4031_4037del	XP_011539519.1:p.Lys1344ThrfsTer?
XM_011541218.1:c.4031_4037del	XP_011539520.1:p.Lys1344ThrfsTer?
XM_011541219.1:c.3977_3983del	XP_011539521.1:p.Lys1326ThrfsTer?
XM_006710563.3:c.4031_4037del	XP_006710626.1:p.Lys1344ThrfsTer?
XM_011541216.2:c.4031_4037del	XP_011539518.1:p.Lys1344ThrfsTer?
XM_011541217.2:c.4031_4037del	XP_011539519.1:p.Lys1344ThrfsTer?
XM_011541218.2:c.4031_4037del	XP_011539520.1:p.Lys1344ThrfsTer?
XM_017000996.1:c.3986_3992del	XP_016856485.1:p.Lys1329ThrfsTer?
XM_017000997.1:c.4031_4037del	XP_016856486.1:p.Lys1344ThrfsTer?
XM_017000999.1:c.3503_3509del	XP_016856488.1:p.Lys1168ThrfsTer?
XM_017001000.2:c.3503_3509del	XP_016856489.1:p.Lys1168ThrfsTer?
XM_017001001.1:c.3233_3239del	XP_016856490.1:p.Lys1078ThrfsTer?
XM_017001003.1:c.2492_2498del	XP_016856492.1:p.Lys831ThrfsTer?
XR_001737114.1:n.3897_3903del
XR_001737115.1:n.3882_3888del
NM_015102.5:c.4031_4037del MANE Select	NP_055917.1:p.Lys1344ThrfsTer?
NM_001291593.2:c.2492_2498del	NP_001278522.1:p.Lys831ThrfsTer?
NM_001291594.2:c.2495_2501del	NP_001278523.1:p.Lys832ThrfsTer?
NR_111987.2:n.4798_4804del