Canonical Allele Identifier: CA2742301595

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864163_5864164insAGA , CM000663.2:g.5864163_5864164insAGA	GRCh38
NC_000001.10:g.5924223_5924224insAGA , CM000663.1:g.5924223_5924224insAGA	GRCh37
NC_000001.9:g.5846810_5846811insAGA	NCBI36
NG_011724.2:g.133308_133309insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-131_3997-130insTCT MANE Select	ENSP00000367398.4:n.3997-131_3997-130insTCT
ENST00000378156.8:c.3997-131_3997-130insTCT	ENSP00000367398.4:n.3997-131_3997-130insTCT
ENST00000378161.5:n.3017_3018insTCT
ENST00000378169.7:c.*2898-131_*2898-130insTCT	ENSP00000367411.3:n.*2898-131_*2898-130insTCT
ENST00000460696.1:n.2745-131_2745-130insTCT
ENST00000478423.6:n.3729-131_3729-130insTCT
ENST00000489180.6:c.*1808-131_*1808-130insTCT	ENSP00000423747.1:n.*1808-131_*1808-130insTCT
NM_001291593.1:c.2458-131_2458-130insTCT	NP_001278522.1:n.2458-131_2458-130insTCT
NM_001291594.1:c.2461-131_2461-130insTCT	NP_001278523.1:n.2461-131_2461-130insTCT
NM_015102.4:c.3997-131_3997-130insTCT	NP_055917.1:n.3997-131_3997-130insTCT
NR_111987.1:n.4812-131_4812-130insTCT
XM_006710563.2:c.3997-131_3997-130insTCT	XP_006710626.1:n.3997-131_3997-130insTCT
XM_006710565.2:c.3997-131_3997-130insTCT	XP_006710628.1:n.3997-131_3997-130insTCT
XM_011541213.1:c.3994-131_3994-130insTCT	XP_011539515.1:n.3994-131_3994-130insTCT
XM_011541214.1:c.3955-131_3955-130insTCT	XP_011539516.1:n.3955-131_3955-130insTCT
XM_011541215.1:c.3886-131_3886-130insTCT	XP_011539517.1:n.3886-131_3886-130insTCT
XM_011541216.1:c.3997-131_3997-130insTCT	XP_011539518.1:n.3997-131_3997-130insTCT
XM_011541217.1:c.3997-131_3997-130insTCT	XP_011539519.1:n.3997-131_3997-130insTCT
XM_011541218.1:c.3997-131_3997-130insTCT	XP_011539520.1:n.3997-131_3997-130insTCT
XM_011541219.1:c.3943-131_3943-130insTCT	XP_011539521.1:n.3943-131_3943-130insTCT
XM_006710563.3:c.3997-131_3997-130insTCT	XP_006710626.1:n.3997-131_3997-130insTCT
XM_011541216.2:c.3997-131_3997-130insTCT	XP_011539518.1:n.3997-131_3997-130insTCT
XM_011541217.2:c.3997-131_3997-130insTCT	XP_011539519.1:n.3997-131_3997-130insTCT
XM_011541218.2:c.3997-131_3997-130insTCT	XP_011539520.1:n.3997-131_3997-130insTCT
XM_017000996.1:c.3952-131_3952-130insTCT	XP_016856485.1:n.3952-131_3952-130insTCT
XM_017000997.1:c.3997-131_3997-130insTCT	XP_016856486.1:n.3997-131_3997-130insTCT
XM_017000999.1:c.3469-131_3469-130insTCT	XP_016856488.1:n.3469-131_3469-130insTCT
XM_017001000.2:c.3469-131_3469-130insTCT	XP_016856489.1:n.3469-131_3469-130insTCT
XM_017001001.1:c.3199-131_3199-130insTCT	XP_016856490.1:n.3199-131_3199-130insTCT
XM_017001003.1:c.2458-131_2458-130insTCT	XP_016856492.1:n.2458-131_2458-130insTCT
XR_001737114.1:n.3863-131_3863-130insTCT
XR_001737115.1:n.3848-131_3848-130insTCT
NM_015102.5:c.3997-131_3997-130insTCT MANE Select	NP_055917.1:n.3997-131_3997-130insTCT
NM_001291593.2:c.2458-131_2458-130insTCT	NP_001278522.1:n.2458-131_2458-130insTCT
NM_001291594.2:c.2461-131_2461-130insTCT	NP_001278523.1:n.2461-131_2461-130insTCT
NR_111987.2:n.4764-131_4764-130insTCT