Canonical Allele Identifier: CA2742301608

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864179_5864181del , CM000663.2:g.5864179_5864181del	GRCh38
NC_000001.10:g.5924239_5924241del , CM000663.1:g.5924239_5924241del	GRCh37
NC_000001.9:g.5846826_5846828del	NCBI36
NG_011724.2:g.133291_133293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-148_3997-146del MANE Select	ENSP00000367398.4:n.3997-148_3997-146del
ENST00000378156.8:c.3997-148_3997-146del	ENSP00000367398.4:n.3997-148_3997-146del
ENST00000378161.5:n.3000_3002del
ENST00000378169.7:c.*2898-148_*2898-146del	ENSP00000367411.3:n.*2898-148_*2898-146del
ENST00000460696.1:n.2745-148_2745-146del
ENST00000478423.6:n.3729-148_3729-146del
ENST00000489180.6:c.*1808-148_*1808-146del	ENSP00000423747.1:n.*1808-148_*1808-146del
NM_001291593.1:c.2458-148_2458-146del	NP_001278522.1:n.2458-148_2458-146del
NM_001291594.1:c.2461-148_2461-146del	NP_001278523.1:n.2461-148_2461-146del
NM_015102.4:c.3997-148_3997-146del	NP_055917.1:n.3997-148_3997-146del
NR_111987.1:n.4812-148_4812-146del
XM_006710563.2:c.3997-148_3997-146del	XP_006710626.1:n.3997-148_3997-146del
XM_006710565.2:c.3997-148_3997-146del	XP_006710628.1:n.3997-148_3997-146del
XM_011541213.1:c.3994-148_3994-146del	XP_011539515.1:n.3994-148_3994-146del
XM_011541214.1:c.3955-148_3955-146del	XP_011539516.1:n.3955-148_3955-146del
XM_011541215.1:c.3886-148_3886-146del	XP_011539517.1:n.3886-148_3886-146del
XM_011541216.1:c.3997-148_3997-146del	XP_011539518.1:n.3997-148_3997-146del
XM_011541217.1:c.3997-148_3997-146del	XP_011539519.1:n.3997-148_3997-146del
XM_011541218.1:c.3997-148_3997-146del	XP_011539520.1:n.3997-148_3997-146del
XM_011541219.1:c.3943-148_3943-146del	XP_011539521.1:n.3943-148_3943-146del
XM_006710563.3:c.3997-148_3997-146del	XP_006710626.1:n.3997-148_3997-146del
XM_011541216.2:c.3997-148_3997-146del	XP_011539518.1:n.3997-148_3997-146del
XM_011541217.2:c.3997-148_3997-146del	XP_011539519.1:n.3997-148_3997-146del
XM_011541218.2:c.3997-148_3997-146del	XP_011539520.1:n.3997-148_3997-146del
XM_017000996.1:c.3952-148_3952-146del	XP_016856485.1:n.3952-148_3952-146del
XM_017000997.1:c.3997-148_3997-146del	XP_016856486.1:n.3997-148_3997-146del
XM_017000999.1:c.3469-148_3469-146del	XP_016856488.1:n.3469-148_3469-146del
XM_017001000.2:c.3469-148_3469-146del	XP_016856489.1:n.3469-148_3469-146del
XM_017001001.1:c.3199-148_3199-146del	XP_016856490.1:n.3199-148_3199-146del
XM_017001003.1:c.2458-148_2458-146del	XP_016856492.1:n.2458-148_2458-146del
XR_001737114.1:n.3863-148_3863-146del
XR_001737115.1:n.3848-148_3848-146del
NM_015102.5:c.3997-148_3997-146del MANE Select	NP_055917.1:n.3997-148_3997-146del
NM_001291593.2:c.2458-148_2458-146del	NP_001278522.1:n.2458-148_2458-146del
NM_001291594.2:c.2461-148_2461-146del	NP_001278523.1:n.2461-148_2461-146del
NR_111987.2:n.4764-148_4764-146del