Canonical Allele Identifier: CA2742301590

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864158_5864159insACA , CM000663.2:g.5864158_5864159insACA	GRCh38
NC_000001.10:g.5924218_5924219insACA , CM000663.1:g.5924218_5924219insACA	GRCh37
NC_000001.9:g.5846805_5846806insACA	NCBI36
NG_011724.2:g.133313_133314insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-126_3997-125insTGT MANE Select	ENSP00000367398.4:n.3997-126_3997-125insTGT
ENST00000378156.8:c.3997-126_3997-125insTGT	ENSP00000367398.4:n.3997-126_3997-125insTGT
ENST00000378161.5:n.3022_3023insTGT
ENST00000378169.7:c.*2898-126_*2898-125insTGT	ENSP00000367411.3:n.*2898-126_*2898-125insTGT
ENST00000460696.1:n.2745-126_2745-125insTGT
ENST00000478423.6:n.3729-126_3729-125insTGT
ENST00000489180.6:c.*1808-126_*1808-125insTGT	ENSP00000423747.1:n.*1808-126_*1808-125insTGT
NM_001291593.1:c.2458-126_2458-125insTGT	NP_001278522.1:n.2458-126_2458-125insTGT
NM_001291594.1:c.2461-126_2461-125insTGT	NP_001278523.1:n.2461-126_2461-125insTGT
NM_015102.4:c.3997-126_3997-125insTGT	NP_055917.1:n.3997-126_3997-125insTGT
NR_111987.1:n.4812-126_4812-125insTGT
XM_006710563.2:c.3997-126_3997-125insTGT	XP_006710626.1:n.3997-126_3997-125insTGT
XM_006710565.2:c.3997-126_3997-125insTGT	XP_006710628.1:n.3997-126_3997-125insTGT
XM_011541213.1:c.3994-126_3994-125insTGT	XP_011539515.1:n.3994-126_3994-125insTGT
XM_011541214.1:c.3955-126_3955-125insTGT	XP_011539516.1:n.3955-126_3955-125insTGT
XM_011541215.1:c.3886-126_3886-125insTGT	XP_011539517.1:n.3886-126_3886-125insTGT
XM_011541216.1:c.3997-126_3997-125insTGT	XP_011539518.1:n.3997-126_3997-125insTGT
XM_011541217.1:c.3997-126_3997-125insTGT	XP_011539519.1:n.3997-126_3997-125insTGT
XM_011541218.1:c.3997-126_3997-125insTGT	XP_011539520.1:n.3997-126_3997-125insTGT
XM_011541219.1:c.3943-126_3943-125insTGT	XP_011539521.1:n.3943-126_3943-125insTGT
XM_006710563.3:c.3997-126_3997-125insTGT	XP_006710626.1:n.3997-126_3997-125insTGT
XM_011541216.2:c.3997-126_3997-125insTGT	XP_011539518.1:n.3997-126_3997-125insTGT
XM_011541217.2:c.3997-126_3997-125insTGT	XP_011539519.1:n.3997-126_3997-125insTGT
XM_011541218.2:c.3997-126_3997-125insTGT	XP_011539520.1:n.3997-126_3997-125insTGT
XM_017000996.1:c.3952-126_3952-125insTGT	XP_016856485.1:n.3952-126_3952-125insTGT
XM_017000997.1:c.3997-126_3997-125insTGT	XP_016856486.1:n.3997-126_3997-125insTGT
XM_017000999.1:c.3469-126_3469-125insTGT	XP_016856488.1:n.3469-126_3469-125insTGT
XM_017001000.2:c.3469-126_3469-125insTGT	XP_016856489.1:n.3469-126_3469-125insTGT
XM_017001001.1:c.3199-126_3199-125insTGT	XP_016856490.1:n.3199-126_3199-125insTGT
XM_017001003.1:c.2458-126_2458-125insTGT	XP_016856492.1:n.2458-126_2458-125insTGT
XR_001737114.1:n.3863-126_3863-125insTGT
XR_001737115.1:n.3848-126_3848-125insTGT
NM_015102.5:c.3997-126_3997-125insTGT MANE Select	NP_055917.1:n.3997-126_3997-125insTGT
NM_001291593.2:c.2458-126_2458-125insTGT	NP_001278522.1:n.2458-126_2458-125insTGT
NM_001291594.2:c.2461-126_2461-125insTGT	NP_001278523.1:n.2461-126_2461-125insTGT
NR_111987.2:n.4764-126_4764-125insTGT