Canonical Allele Identifier: CA2742301526

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864087_5864088insA , CM000663.2:g.5864087_5864088insA	GRCh38
NC_000001.10:g.5924147_5924148insA , CM000663.1:g.5924147_5924148insA	GRCh37
NC_000001.9:g.5846734_5846735insA	NCBI36
NG_011724.2:g.133384_133385insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-55_3997-54insT MANE Select	ENSP00000367398.4:n.3997-55_3997-54insT
ENST00000378156.8:c.3997-55_3997-54insT	ENSP00000367398.4:n.3997-55_3997-54insT
ENST00000378161.5:n.3093_3094insT
ENST00000378169.7:c.*2898-55_*2898-54insT	ENSP00000367411.3:n.*2898-55_*2898-54insT
ENST00000460696.1:n.2745-55_2745-54insT
ENST00000478423.6:n.3729-55_3729-54insT
ENST00000489180.6:c.*1808-55_*1808-54insT	ENSP00000423747.1:n.*1808-55_*1808-54insT
NM_001291593.1:c.2458-55_2458-54insT	NP_001278522.1:n.2458-55_2458-54insT
NM_001291594.1:c.2461-55_2461-54insT	NP_001278523.1:n.2461-55_2461-54insT
NM_015102.4:c.3997-55_3997-54insT	NP_055917.1:n.3997-55_3997-54insT
NR_111987.1:n.4812-55_4812-54insT
XM_006710563.2:c.3997-55_3997-54insT	XP_006710626.1:n.3997-55_3997-54insT
XM_006710565.2:c.3997-55_3997-54insT	XP_006710628.1:n.3997-55_3997-54insT
XM_011541213.1:c.3994-55_3994-54insT	XP_011539515.1:n.3994-55_3994-54insT
XM_011541214.1:c.3955-55_3955-54insT	XP_011539516.1:n.3955-55_3955-54insT
XM_011541215.1:c.3886-55_3886-54insT	XP_011539517.1:n.3886-55_3886-54insT
XM_011541216.1:c.3997-55_3997-54insT	XP_011539518.1:n.3997-55_3997-54insT
XM_011541217.1:c.3997-55_3997-54insT	XP_011539519.1:n.3997-55_3997-54insT
XM_011541218.1:c.3997-55_3997-54insT	XP_011539520.1:n.3997-55_3997-54insT
XM_011541219.1:c.3943-55_3943-54insT	XP_011539521.1:n.3943-55_3943-54insT
XM_006710563.3:c.3997-55_3997-54insT	XP_006710626.1:n.3997-55_3997-54insT
XM_011541216.2:c.3997-55_3997-54insT	XP_011539518.1:n.3997-55_3997-54insT
XM_011541217.2:c.3997-55_3997-54insT	XP_011539519.1:n.3997-55_3997-54insT
XM_011541218.2:c.3997-55_3997-54insT	XP_011539520.1:n.3997-55_3997-54insT
XM_017000996.1:c.3952-55_3952-54insT	XP_016856485.1:n.3952-55_3952-54insT
XM_017000997.1:c.3997-55_3997-54insT	XP_016856486.1:n.3997-55_3997-54insT
XM_017000999.1:c.3469-55_3469-54insT	XP_016856488.1:n.3469-55_3469-54insT
XM_017001000.2:c.3469-55_3469-54insT	XP_016856489.1:n.3469-55_3469-54insT
XM_017001001.1:c.3199-55_3199-54insT	XP_016856490.1:n.3199-55_3199-54insT
XM_017001003.1:c.2458-55_2458-54insT	XP_016856492.1:n.2458-55_2458-54insT
XR_001737114.1:n.3863-55_3863-54insT
XR_001737115.1:n.3848-55_3848-54insT
NM_015102.5:c.3997-55_3997-54insT MANE Select	NP_055917.1:n.3997-55_3997-54insT
NM_001291593.2:c.2458-55_2458-54insT	NP_001278522.1:n.2458-55_2458-54insT
NM_001291594.2:c.2461-55_2461-54insT	NP_001278523.1:n.2461-55_2461-54insT
NR_111987.2:n.4764-55_4764-54insT