Canonical Allele Identifier: CA2742301531

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864091_5864092insA , CM000663.2:g.5864091_5864092insA	GRCh38
NC_000001.10:g.5924151_5924152insA , CM000663.1:g.5924151_5924152insA	GRCh37
NC_000001.9:g.5846738_5846739insA	NCBI36
NG_011724.2:g.133380_133381insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-59_3997-58insT MANE Select	ENSP00000367398.4:n.3997-59_3997-58insT
ENST00000378156.8:c.3997-59_3997-58insT	ENSP00000367398.4:n.3997-59_3997-58insT
ENST00000378161.5:n.3089_3090insT
ENST00000378169.7:c.*2898-59_*2898-58insT	ENSP00000367411.3:n.*2898-59_*2898-58insT
ENST00000460696.1:n.2745-59_2745-58insT
ENST00000478423.6:n.3729-59_3729-58insT
ENST00000489180.6:c.*1808-59_*1808-58insT	ENSP00000423747.1:n.*1808-59_*1808-58insT
NM_001291593.1:c.2458-59_2458-58insT	NP_001278522.1:n.2458-59_2458-58insT
NM_001291594.1:c.2461-59_2461-58insT	NP_001278523.1:n.2461-59_2461-58insT
NM_015102.4:c.3997-59_3997-58insT	NP_055917.1:n.3997-59_3997-58insT
NR_111987.1:n.4812-59_4812-58insT
XM_006710563.2:c.3997-59_3997-58insT	XP_006710626.1:n.3997-59_3997-58insT
XM_006710565.2:c.3997-59_3997-58insT	XP_006710628.1:n.3997-59_3997-58insT
XM_011541213.1:c.3994-59_3994-58insT	XP_011539515.1:n.3994-59_3994-58insT
XM_011541214.1:c.3955-59_3955-58insT	XP_011539516.1:n.3955-59_3955-58insT
XM_011541215.1:c.3886-59_3886-58insT	XP_011539517.1:n.3886-59_3886-58insT
XM_011541216.1:c.3997-59_3997-58insT	XP_011539518.1:n.3997-59_3997-58insT
XM_011541217.1:c.3997-59_3997-58insT	XP_011539519.1:n.3997-59_3997-58insT
XM_011541218.1:c.3997-59_3997-58insT	XP_011539520.1:n.3997-59_3997-58insT
XM_011541219.1:c.3943-59_3943-58insT	XP_011539521.1:n.3943-59_3943-58insT
XM_006710563.3:c.3997-59_3997-58insT	XP_006710626.1:n.3997-59_3997-58insT
XM_011541216.2:c.3997-59_3997-58insT	XP_011539518.1:n.3997-59_3997-58insT
XM_011541217.2:c.3997-59_3997-58insT	XP_011539519.1:n.3997-59_3997-58insT
XM_011541218.2:c.3997-59_3997-58insT	XP_011539520.1:n.3997-59_3997-58insT
XM_017000996.1:c.3952-59_3952-58insT	XP_016856485.1:n.3952-59_3952-58insT
XM_017000997.1:c.3997-59_3997-58insT	XP_016856486.1:n.3997-59_3997-58insT
XM_017000999.1:c.3469-59_3469-58insT	XP_016856488.1:n.3469-59_3469-58insT
XM_017001000.2:c.3469-59_3469-58insT	XP_016856489.1:n.3469-59_3469-58insT
XM_017001001.1:c.3199-59_3199-58insT	XP_016856490.1:n.3199-59_3199-58insT
XM_017001003.1:c.2458-59_2458-58insT	XP_016856492.1:n.2458-59_2458-58insT
XR_001737114.1:n.3863-59_3863-58insT
XR_001737115.1:n.3848-59_3848-58insT
NM_015102.5:c.3997-59_3997-58insT MANE Select	NP_055917.1:n.3997-59_3997-58insT
NM_001291593.2:c.2458-59_2458-58insT	NP_001278522.1:n.2458-59_2458-58insT
NM_001291594.2:c.2461-59_2461-58insT	NP_001278523.1:n.2461-59_2461-58insT
NR_111987.2:n.4764-59_4764-58insT