Canonical Allele Identifier: CA2642901992
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864156_5864157insGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGG , CM000663.2:g.5864156_5864157insGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGG GRCh38
NC_000001.10:g.5924216_5924217insGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGG , CM000663.1:g.5924216_5924217insGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGG GRCh37
NC_000001.9:g.5846803_5846804insGGGAGCCCTGCGGGTGCATCCAAGGCCTGCCTTTGACTTCAGCGCCCGGTACAAGGATGGGAACCAGTGCTCAGCCAGTGTGACGCGTTACTTGG NCBI36
NG_011724.2:g.133316_133317insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC MANE Select ENSP00000367398.4:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGC...
ENST00000378156.8:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC ENSP00000367398.4:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGC...
ENST00000378161.5:n.3025_3026insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC
ENST00000378169.7:c.*2898-123_*2898-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC ENSP00000367411.3:n.*2898-123_*2898-122insCAAGTAACGCGTCACACTG...
ENST00000460696.1:n.2745-123_2745-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC
ENST00000478423.6:n.3729-123_3729-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC
ENST00000489180.6:c.*1808-123_*1808-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC ENSP00000423747.1:n.*1808-123_*1808-122insCAAGTAACGCGTCACACTG...
NM_001291593.1:c.2458-123_2458-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC NP_001278522.1:n.2458-123_2458-122insCAAGTAACGCGTCACACTGGCTGA...
NM_001291594.1:c.2461-123_2461-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC NP_001278523.1:n.2461-123_2461-122insCAAGTAACGCGTCACACTGGCTGA...
NM_015102.4:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC NP_055917.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCA...
NR_111987.1:n.4812-123_4812-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC
XM_006710563.2:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_006710626.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_006710565.2:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_006710628.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541213.1:c.3994-123_3994-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539515.1:n.3994-123_3994-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541214.1:c.3955-123_3955-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539516.1:n.3955-123_3955-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541215.1:c.3886-123_3886-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539517.1:n.3886-123_3886-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541216.1:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539518.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541217.1:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539519.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541218.1:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539520.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541219.1:c.3943-123_3943-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539521.1:n.3943-123_3943-122insCAAGTAACGCGTCACACTGGCTGA...
XM_006710563.3:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_006710626.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541216.2:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539518.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541217.2:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539519.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_011541218.2:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_011539520.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_017000996.1:c.3952-123_3952-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_016856485.1:n.3952-123_3952-122insCAAGTAACGCGTCACACTGGCTGA...
XM_017000997.1:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_016856486.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGA...
XM_017000999.1:c.3469-123_3469-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_016856488.1:n.3469-123_3469-122insCAAGTAACGCGTCACACTGGCTGA...
XM_017001000.2:c.3469-123_3469-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_016856489.1:n.3469-123_3469-122insCAAGTAACGCGTCACACTGGCTGA...
XM_017001001.1:c.3199-123_3199-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_016856490.1:n.3199-123_3199-122insCAAGTAACGCGTCACACTGGCTGA...
XM_017001003.1:c.2458-123_2458-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC XP_016856492.1:n.2458-123_2458-122insCAAGTAACGCGTCACACTGGCTGA...
XR_001737114.1:n.3863-123_3863-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC
XR_001737115.1:n.3848-123_3848-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC
NM_015102.5:c.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC MANE Select NP_055917.1:n.3997-123_3997-122insCAAGTAACGCGTCACACTGGCTGAGCA...
NM_001291593.2:c.2458-123_2458-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC NP_001278522.1:n.2458-123_2458-122insCAAGTAACGCGTCACACTGGCTGA...
NM_001291594.2:c.2461-123_2461-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC NP_001278523.1:n.2461-123_2461-122insCAAGTAACGCGTCACACTGGCTGA...
NR_111987.2:n.4764-123_4764-122insCAAGTAACGCGTCACACTGGCTGAGCACTGGTTCCCATCCTTGTACCGGGCGCTGAAGTCAAAGGCAGGCCTTGGATGCACCCGCAGGGCTCCCC