Canonical Allele Identifier: CA2742301604

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864175_5864176insAC , CM000663.2:g.5864175_5864176insAC	GRCh38
NC_000001.10:g.5924235_5924236insAC , CM000663.1:g.5924235_5924236insAC	GRCh37
NC_000001.9:g.5846822_5846823insAC	NCBI36
NG_011724.2:g.133296_133297insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-143_3997-142insGT MANE Select	ENSP00000367398.4:n.3997-143_3997-142insGT
ENST00000378156.8:c.3997-143_3997-142insGT	ENSP00000367398.4:n.3997-143_3997-142insGT
ENST00000378161.5:n.3005_3006insGT
ENST00000378169.7:c.*2898-143_*2898-142insGT	ENSP00000367411.3:n.*2898-143_*2898-142insGT
ENST00000460696.1:n.2745-143_2745-142insGT
ENST00000478423.6:n.3729-143_3729-142insGT
ENST00000489180.6:c.*1808-143_*1808-142insGT	ENSP00000423747.1:n.*1808-143_*1808-142insGT
NM_001291593.1:c.2458-143_2458-142insGT	NP_001278522.1:n.2458-143_2458-142insGT
NM_001291594.1:c.2461-143_2461-142insGT	NP_001278523.1:n.2461-143_2461-142insGT
NM_015102.4:c.3997-143_3997-142insGT	NP_055917.1:n.3997-143_3997-142insGT
NR_111987.1:n.4812-143_4812-142insGT
XM_006710563.2:c.3997-143_3997-142insGT	XP_006710626.1:n.3997-143_3997-142insGT
XM_006710565.2:c.3997-143_3997-142insGT	XP_006710628.1:n.3997-143_3997-142insGT
XM_011541213.1:c.3994-143_3994-142insGT	XP_011539515.1:n.3994-143_3994-142insGT
XM_011541214.1:c.3955-143_3955-142insGT	XP_011539516.1:n.3955-143_3955-142insGT
XM_011541215.1:c.3886-143_3886-142insGT	XP_011539517.1:n.3886-143_3886-142insGT
XM_011541216.1:c.3997-143_3997-142insGT	XP_011539518.1:n.3997-143_3997-142insGT
XM_011541217.1:c.3997-143_3997-142insGT	XP_011539519.1:n.3997-143_3997-142insGT
XM_011541218.1:c.3997-143_3997-142insGT	XP_011539520.1:n.3997-143_3997-142insGT
XM_011541219.1:c.3943-143_3943-142insGT	XP_011539521.1:n.3943-143_3943-142insGT
XM_006710563.3:c.3997-143_3997-142insGT	XP_006710626.1:n.3997-143_3997-142insGT
XM_011541216.2:c.3997-143_3997-142insGT	XP_011539518.1:n.3997-143_3997-142insGT
XM_011541217.2:c.3997-143_3997-142insGT	XP_011539519.1:n.3997-143_3997-142insGT
XM_011541218.2:c.3997-143_3997-142insGT	XP_011539520.1:n.3997-143_3997-142insGT
XM_017000996.1:c.3952-143_3952-142insGT	XP_016856485.1:n.3952-143_3952-142insGT
XM_017000997.1:c.3997-143_3997-142insGT	XP_016856486.1:n.3997-143_3997-142insGT
XM_017000999.1:c.3469-143_3469-142insGT	XP_016856488.1:n.3469-143_3469-142insGT
XM_017001000.2:c.3469-143_3469-142insGT	XP_016856489.1:n.3469-143_3469-142insGT
XM_017001001.1:c.3199-143_3199-142insGT	XP_016856490.1:n.3199-143_3199-142insGT
XM_017001003.1:c.2458-143_2458-142insGT	XP_016856492.1:n.2458-143_2458-142insGT
XR_001737114.1:n.3863-143_3863-142insGT
XR_001737115.1:n.3848-143_3848-142insGT
NM_015102.5:c.3997-143_3997-142insGT MANE Select	NP_055917.1:n.3997-143_3997-142insGT
NM_001291593.2:c.2458-143_2458-142insGT	NP_001278522.1:n.2458-143_2458-142insGT
NM_001291594.2:c.2461-143_2461-142insGT	NP_001278523.1:n.2461-143_2461-142insGT
NR_111987.2:n.4764-143_4764-142insGT