Canonical Allele Identifier: CA2532726099
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTGAG , CM000663.2:g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTGAG GRCh38
NC_000001.10:g.5923977_5923978insGAACCCTTCAACCCGCGGTTCATTGAG , CM000663.1:g.5923977_5923978insGAACCCTTCAACCCGCGGTTCATTGAG GRCh37
NC_000001.9:g.5846564_5846565insGAACCCTTCAACCCGCGGTTCATTGAG NCBI36
NG_011724.2:g.133554_133555insCTCAATGAACCGCGGGTTGAAGGGTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC MANE Select ENSP00000367398.4:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGl...
ENST00000378156.8:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC ENSP00000367398.4:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGl...
ENST00000378161.5:n.3263_3264insCTCAATGAACCGCGGGTTGAAGGGTTC
ENST00000378169.7:c.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC ENSP00000367411.3:n.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC...
ENST00000460696.1:n.2860_2861insCTCAATGAACCGCGGGTTGAAGGGTTC
ENST00000478423.6:n.3844_3845insCTCAATGAACCGCGGGTTGAAGGGTTC
ENST00000489180.6:c.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC ENSP00000423747.1:n.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC...
NM_001291593.1:c.2573_2574insCTCAATGAACCGCGGGTTGAAGGGTTC NP_001278522.1:p.Leu858_Leu859insSerMetAsnArgGlyLeuLysGlySer
NM_001291594.1:c.2576_2577insCTCAATGAACCGCGGGTTGAAGGGTTC NP_001278523.1:p.Leu859_Leu860insSerMetAsnArgGlyLeuLysGlySer
NM_015102.4:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC NP_055917.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySer
NR_111987.1:n.4927_4928insCTCAATGAACCGCGGGTTGAAGGGTTC
XM_006710563.2:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_006710626.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_006710565.2:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_006710628.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541213.1:c.4109_4110insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539515.1:p.Leu1370_Leu1371insSerMetAsnArgGlyLeuLysGlySe...
XM_011541214.1:c.4070_4071insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539516.1:p.Leu1357_Leu1358insSerMetAsnArgGlyLeuLysGlySe...
XM_011541215.1:c.4001_4002insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539517.1:p.Leu1334_Leu1335insSerMetAsnArgGlyLeuLysGlySe...
XM_011541216.1:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539518.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541217.1:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539519.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541218.1:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539520.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541219.1:c.4058_4059insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539521.1:p.Leu1353_Leu1354insSerMetAsnArgGlyLeuLysGlySe...
XM_006710563.3:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_006710626.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541216.2:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539518.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541217.2:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539519.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_011541218.2:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_011539520.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_017000996.1:c.4067_4068insCTCAATGAACCGCGGGTTGAAGGGTTC XP_016856485.1:p.Leu1356_Leu1357insSerMetAsnArgGlyLeuLysGlySe...
XM_017000997.1:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC XP_016856486.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySe...
XM_017000999.1:c.3584_3585insCTCAATGAACCGCGGGTTGAAGGGTTC XP_016856488.1:p.Leu1195_Leu1196insSerMetAsnArgGlyLeuLysGlySe...
XM_017001000.2:c.3584_3585insCTCAATGAACCGCGGGTTGAAGGGTTC XP_016856489.1:p.Leu1195_Leu1196insSerMetAsnArgGlyLeuLysGlySe...
XM_017001001.1:c.3314_3315insCTCAATGAACCGCGGGTTGAAGGGTTC XP_016856490.1:p.Leu1105_Leu1106insSerMetAsnArgGlyLeuLysGlySe...
XM_017001003.1:c.2573_2574insCTCAATGAACCGCGGGTTGAAGGGTTC XP_016856492.1:p.Leu858_Leu859insSerMetAsnArgGlyLeuLysGlySer
XR_001737114.1:n.3978_3979insCTCAATGAACCGCGGGTTGAAGGGTTC
XR_001737115.1:n.3963_3964insCTCAATGAACCGCGGGTTGAAGGGTTC
NM_015102.5:c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC MANE Select NP_055917.1:p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySer
NM_001291593.2:c.2573_2574insCTCAATGAACCGCGGGTTGAAGGGTTC NP_001278522.1:p.Leu858_Leu859insSerMetAsnArgGlyLeuLysGlySer
NM_001291594.2:c.2576_2577insCTCAATGAACCGCGGGTTGAAGGGTTC NP_001278523.1:p.Leu859_Leu860insSerMetAsnArgGlyLeuLysGlySer
NR_111987.2:n.4879_4880insCTCAATGAACCGCGGGTTGAAGGGTTC