Canonical Allele Identifier: CA1151209322

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864044_5864045delinsAG , CM000663.2:g.5864044_5864045delinsAG	GRCh38
NC_000001.10:g.5924104_5924105delinsAG , CM000663.1:g.5924104_5924105delinsAG	GRCh37
NC_000001.9:g.5846691_5846692delinsAG	NCBI36
NG_011724.2:g.133427_133428delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-12_3997-11delinsCT MANE Select	ENSP00000367398.4:n.3997-12_3997-11delinsCT
ENST00000378156.8:c.3997-12_3997-11delinsCT	ENSP00000367398.4:n.3997-12_3997-11delinsCT
ENST00000378161.5:n.3136_3137delinsCT
ENST00000378169.7:c.*2898-12_*2898-11delinsCT	ENSP00000367411.3:n.*2898-12_*2898-11delinsCT
ENST00000460696.1:n.2745-12_2745-11delinsCT
ENST00000478423.6:n.3729-12_3729-11delinsCT
ENST00000489180.6:c.*1808-12_*1808-11delinsCT	ENSP00000423747.1:n.*1808-12_*1808-11delinsCT
NM_001291593.1:c.2458-12_2458-11delinsCT	NP_001278522.1:n.2458-12_2458-11delinsCT
NM_001291594.1:c.2461-12_2461-11delinsCT	NP_001278523.1:n.2461-12_2461-11delinsCT
NM_015102.4:c.3997-12_3997-11delinsCT	NP_055917.1:n.3997-12_3997-11delinsCT
NR_111987.1:n.4812-12_4812-11delinsCT
XM_006710563.2:c.3997-12_3997-11delinsCT	XP_006710626.1:n.3997-12_3997-11delinsCT
XM_006710565.2:c.3997-12_3997-11delinsCT	XP_006710628.1:n.3997-12_3997-11delinsCT
XM_011541213.1:c.3994-12_3994-11delinsCT	XP_011539515.1:n.3994-12_3994-11delinsCT
XM_011541214.1:c.3955-12_3955-11delinsCT	XP_011539516.1:n.3955-12_3955-11delinsCT
XM_011541215.1:c.3886-12_3886-11delinsCT	XP_011539517.1:n.3886-12_3886-11delinsCT
XM_011541216.1:c.3997-12_3997-11delinsCT	XP_011539518.1:n.3997-12_3997-11delinsCT
XM_011541217.1:c.3997-12_3997-11delinsCT	XP_011539519.1:n.3997-12_3997-11delinsCT
XM_011541218.1:c.3997-12_3997-11delinsCT	XP_011539520.1:n.3997-12_3997-11delinsCT
XM_011541219.1:c.3943-12_3943-11delinsCT	XP_011539521.1:n.3943-12_3943-11delinsCT
XM_006710563.3:c.3997-12_3997-11delinsCT	XP_006710626.1:n.3997-12_3997-11delinsCT
XM_011541216.2:c.3997-12_3997-11delinsCT	XP_011539518.1:n.3997-12_3997-11delinsCT
XM_011541217.2:c.3997-12_3997-11delinsCT	XP_011539519.1:n.3997-12_3997-11delinsCT
XM_011541218.2:c.3997-12_3997-11delinsCT	XP_011539520.1:n.3997-12_3997-11delinsCT
XM_017000996.1:c.3952-12_3952-11delinsCT	XP_016856485.1:n.3952-12_3952-11delinsCT
XM_017000997.1:c.3997-12_3997-11delinsCT	XP_016856486.1:n.3997-12_3997-11delinsCT
XM_017000999.1:c.3469-12_3469-11delinsCT	XP_016856488.1:n.3469-12_3469-11delinsCT
XM_017001000.2:c.3469-12_3469-11delinsCT	XP_016856489.1:n.3469-12_3469-11delinsCT
XM_017001001.1:c.3199-12_3199-11delinsCT	XP_016856490.1:n.3199-12_3199-11delinsCT
XM_017001003.1:c.2458-12_2458-11delinsCT	XP_016856492.1:n.2458-12_2458-11delinsCT
XR_001737114.1:n.3863-12_3863-11delinsCT
XR_001737115.1:n.3848-12_3848-11delinsCT
NM_015102.5:c.3997-12_3997-11delinsCT MANE Select	NP_055917.1:n.3997-12_3997-11delinsCT
NM_001291593.2:c.2458-12_2458-11delinsCT	NP_001278522.1:n.2458-12_2458-11delinsCT
NM_001291594.2:c.2461-12_2461-11delinsCT	NP_001278523.1:n.2461-12_2461-11delinsCT
NR_111987.2:n.4764-12_4764-11delinsCT