Canonical Allele Identifier: CA2742301591

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864159_5864183del , CM000663.2:g.5864159_5864183del	GRCh38
NC_000001.10:g.5924219_5924243del , CM000663.1:g.5924219_5924243del	GRCh37
NC_000001.9:g.5846806_5846830del	NCBI36
NG_011724.2:g.133289_133313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-150_3997-126del MANE Select	ENSP00000367398.4:n.3997-150_3997-126del
ENST00000378156.8:c.3997-150_3997-126del	ENSP00000367398.4:n.3997-150_3997-126del
ENST00000378161.5:n.2998_3022del
ENST00000378169.7:c.*2898-150_*2898-126del	ENSP00000367411.3:n.*2898-150_*2898-126del
ENST00000460696.1:n.2745-150_2745-126del
ENST00000478423.6:n.3729-150_3729-126del
ENST00000489180.6:c.*1808-150_*1808-126del	ENSP00000423747.1:n.*1808-150_*1808-126del
NM_001291593.1:c.2458-150_2458-126del	NP_001278522.1:n.2458-150_2458-126del
NM_001291594.1:c.2461-150_2461-126del	NP_001278523.1:n.2461-150_2461-126del
NM_015102.4:c.3997-150_3997-126del	NP_055917.1:n.3997-150_3997-126del
NR_111987.1:n.4812-150_4812-126del
XM_006710563.2:c.3997-150_3997-126del	XP_006710626.1:n.3997-150_3997-126del
XM_006710565.2:c.3997-150_3997-126del	XP_006710628.1:n.3997-150_3997-126del
XM_011541213.1:c.3994-150_3994-126del	XP_011539515.1:n.3994-150_3994-126del
XM_011541214.1:c.3955-150_3955-126del	XP_011539516.1:n.3955-150_3955-126del
XM_011541215.1:c.3886-150_3886-126del	XP_011539517.1:n.3886-150_3886-126del
XM_011541216.1:c.3997-150_3997-126del	XP_011539518.1:n.3997-150_3997-126del
XM_011541217.1:c.3997-150_3997-126del	XP_011539519.1:n.3997-150_3997-126del
XM_011541218.1:c.3997-150_3997-126del	XP_011539520.1:n.3997-150_3997-126del
XM_011541219.1:c.3943-150_3943-126del	XP_011539521.1:n.3943-150_3943-126del
XM_006710563.3:c.3997-150_3997-126del	XP_006710626.1:n.3997-150_3997-126del
XM_011541216.2:c.3997-150_3997-126del	XP_011539518.1:n.3997-150_3997-126del
XM_011541217.2:c.3997-150_3997-126del	XP_011539519.1:n.3997-150_3997-126del
XM_011541218.2:c.3997-150_3997-126del	XP_011539520.1:n.3997-150_3997-126del
XM_017000996.1:c.3952-150_3952-126del	XP_016856485.1:n.3952-150_3952-126del
XM_017000997.1:c.3997-150_3997-126del	XP_016856486.1:n.3997-150_3997-126del
XM_017000999.1:c.3469-150_3469-126del	XP_016856488.1:n.3469-150_3469-126del
XM_017001000.2:c.3469-150_3469-126del	XP_016856489.1:n.3469-150_3469-126del
XM_017001001.1:c.3199-150_3199-126del	XP_016856490.1:n.3199-150_3199-126del
XM_017001003.1:c.2458-150_2458-126del	XP_016856492.1:n.2458-150_2458-126del
XR_001737114.1:n.3863-150_3863-126del
XR_001737115.1:n.3848-150_3848-126del
NM_015102.5:c.3997-150_3997-126del MANE Select	NP_055917.1:n.3997-150_3997-126del
NM_001291593.2:c.2458-150_2458-126del	NP_001278522.1:n.2458-150_2458-126del
NM_001291594.2:c.2461-150_2461-126del	NP_001278523.1:n.2461-150_2461-126del
NR_111987.2:n.4764-150_4764-126del