Canonical Allele Identifier: CA2742301603

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864172_5864185del , CM000663.2:g.5864172_5864185del	GRCh38
NC_000001.10:g.5924232_5924245del , CM000663.1:g.5924232_5924245del	GRCh37
NC_000001.9:g.5846819_5846832del	NCBI36
NG_011724.2:g.133287_133300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-152_3997-139del MANE Select	ENSP00000367398.4:n.3997-152_3997-139del
ENST00000378156.8:c.3997-152_3997-139del	ENSP00000367398.4:n.3997-152_3997-139del
ENST00000378161.5:n.2996_3009del
ENST00000378169.7:c.*2898-152_*2898-139del	ENSP00000367411.3:n.*2898-152_*2898-139del
ENST00000460696.1:n.2745-152_2745-139del
ENST00000478423.6:n.3729-152_3729-139del
ENST00000489180.6:c.*1808-152_*1808-139del	ENSP00000423747.1:n.*1808-152_*1808-139del
NM_001291593.1:c.2458-152_2458-139del	NP_001278522.1:n.2458-152_2458-139del
NM_001291594.1:c.2461-152_2461-139del	NP_001278523.1:n.2461-152_2461-139del
NM_015102.4:c.3997-152_3997-139del	NP_055917.1:n.3997-152_3997-139del
NR_111987.1:n.4812-152_4812-139del
XM_006710563.2:c.3997-152_3997-139del	XP_006710626.1:n.3997-152_3997-139del
XM_006710565.2:c.3997-152_3997-139del	XP_006710628.1:n.3997-152_3997-139del
XM_011541213.1:c.3994-152_3994-139del	XP_011539515.1:n.3994-152_3994-139del
XM_011541214.1:c.3955-152_3955-139del	XP_011539516.1:n.3955-152_3955-139del
XM_011541215.1:c.3886-152_3886-139del	XP_011539517.1:n.3886-152_3886-139del
XM_011541216.1:c.3997-152_3997-139del	XP_011539518.1:n.3997-152_3997-139del
XM_011541217.1:c.3997-152_3997-139del	XP_011539519.1:n.3997-152_3997-139del
XM_011541218.1:c.3997-152_3997-139del	XP_011539520.1:n.3997-152_3997-139del
XM_011541219.1:c.3943-152_3943-139del	XP_011539521.1:n.3943-152_3943-139del
XM_006710563.3:c.3997-152_3997-139del	XP_006710626.1:n.3997-152_3997-139del
XM_011541216.2:c.3997-152_3997-139del	XP_011539518.1:n.3997-152_3997-139del
XM_011541217.2:c.3997-152_3997-139del	XP_011539519.1:n.3997-152_3997-139del
XM_011541218.2:c.3997-152_3997-139del	XP_011539520.1:n.3997-152_3997-139del
XM_017000996.1:c.3952-152_3952-139del	XP_016856485.1:n.3952-152_3952-139del
XM_017000997.1:c.3997-152_3997-139del	XP_016856486.1:n.3997-152_3997-139del
XM_017000999.1:c.3469-152_3469-139del	XP_016856488.1:n.3469-152_3469-139del
XM_017001000.2:c.3469-152_3469-139del	XP_016856489.1:n.3469-152_3469-139del
XM_017001001.1:c.3199-152_3199-139del	XP_016856490.1:n.3199-152_3199-139del
XM_017001003.1:c.2458-152_2458-139del	XP_016856492.1:n.2458-152_2458-139del
XR_001737114.1:n.3863-152_3863-139del
XR_001737115.1:n.3848-152_3848-139del
NM_015102.5:c.3997-152_3997-139del MANE Select	NP_055917.1:n.3997-152_3997-139del
NM_001291593.2:c.2458-152_2458-139del	NP_001278522.1:n.2458-152_2458-139del
NM_001291594.2:c.2461-152_2461-139del	NP_001278523.1:n.2461-152_2461-139del
NR_111987.2:n.4764-152_4764-139del