Canonical Allele Identifier: CA2742301559

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864115_5864116insA , CM000663.2:g.5864115_5864116insA	GRCh38
NC_000001.10:g.5924175_5924176insA , CM000663.1:g.5924175_5924176insA	GRCh37
NC_000001.9:g.5846762_5846763insA	NCBI36
NG_011724.2:g.133356_133357insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-83_3997-82insT MANE Select	ENSP00000367398.4:n.3997-83_3997-82insT
ENST00000378156.8:c.3997-83_3997-82insT	ENSP00000367398.4:n.3997-83_3997-82insT
ENST00000378161.5:n.3065_3066insT
ENST00000378169.7:c.*2898-83_*2898-82insT	ENSP00000367411.3:n.*2898-83_*2898-82insT
ENST00000460696.1:n.2745-83_2745-82insT
ENST00000478423.6:n.3729-83_3729-82insT
ENST00000489180.6:c.*1808-83_*1808-82insT	ENSP00000423747.1:n.*1808-83_*1808-82insT
NM_001291593.1:c.2458-83_2458-82insT	NP_001278522.1:n.2458-83_2458-82insT
NM_001291594.1:c.2461-83_2461-82insT	NP_001278523.1:n.2461-83_2461-82insT
NM_015102.4:c.3997-83_3997-82insT	NP_055917.1:n.3997-83_3997-82insT
NR_111987.1:n.4812-83_4812-82insT
XM_006710563.2:c.3997-83_3997-82insT	XP_006710626.1:n.3997-83_3997-82insT
XM_006710565.2:c.3997-83_3997-82insT	XP_006710628.1:n.3997-83_3997-82insT
XM_011541213.1:c.3994-83_3994-82insT	XP_011539515.1:n.3994-83_3994-82insT
XM_011541214.1:c.3955-83_3955-82insT	XP_011539516.1:n.3955-83_3955-82insT
XM_011541215.1:c.3886-83_3886-82insT	XP_011539517.1:n.3886-83_3886-82insT
XM_011541216.1:c.3997-83_3997-82insT	XP_011539518.1:n.3997-83_3997-82insT
XM_011541217.1:c.3997-83_3997-82insT	XP_011539519.1:n.3997-83_3997-82insT
XM_011541218.1:c.3997-83_3997-82insT	XP_011539520.1:n.3997-83_3997-82insT
XM_011541219.1:c.3943-83_3943-82insT	XP_011539521.1:n.3943-83_3943-82insT
XM_006710563.3:c.3997-83_3997-82insT	XP_006710626.1:n.3997-83_3997-82insT
XM_011541216.2:c.3997-83_3997-82insT	XP_011539518.1:n.3997-83_3997-82insT
XM_011541217.2:c.3997-83_3997-82insT	XP_011539519.1:n.3997-83_3997-82insT
XM_011541218.2:c.3997-83_3997-82insT	XP_011539520.1:n.3997-83_3997-82insT
XM_017000996.1:c.3952-83_3952-82insT	XP_016856485.1:n.3952-83_3952-82insT
XM_017000997.1:c.3997-83_3997-82insT	XP_016856486.1:n.3997-83_3997-82insT
XM_017000999.1:c.3469-83_3469-82insT	XP_016856488.1:n.3469-83_3469-82insT
XM_017001000.2:c.3469-83_3469-82insT	XP_016856489.1:n.3469-83_3469-82insT
XM_017001001.1:c.3199-83_3199-82insT	XP_016856490.1:n.3199-83_3199-82insT
XM_017001003.1:c.2458-83_2458-82insT	XP_016856492.1:n.2458-83_2458-82insT
XR_001737114.1:n.3863-83_3863-82insT
XR_001737115.1:n.3848-83_3848-82insT
NM_015102.5:c.3997-83_3997-82insT MANE Select	NP_055917.1:n.3997-83_3997-82insT
NM_001291593.2:c.2458-83_2458-82insT	NP_001278522.1:n.2458-83_2458-82insT
NM_001291594.2:c.2461-83_2461-82insT	NP_001278523.1:n.2461-83_2461-82insT
NR_111987.2:n.4764-83_4764-82insT