Canonical Allele Identifier: CA2742301514

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864063_5864064insACA , CM000663.2:g.5864063_5864064insACA	GRCh38
NC_000001.10:g.5924123_5924124insACA , CM000663.1:g.5924123_5924124insACA	GRCh37
NC_000001.9:g.5846710_5846711insACA	NCBI36
NG_011724.2:g.133408_133409insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-31_3997-30insTGT MANE Select	ENSP00000367398.4:n.3997-31_3997-30insTGT
ENST00000378156.8:c.3997-31_3997-30insTGT	ENSP00000367398.4:n.3997-31_3997-30insTGT
ENST00000378161.5:n.3117_3118insTGT
ENST00000378169.7:c.*2898-31_*2898-30insTGT	ENSP00000367411.3:n.*2898-31_*2898-30insTGT
ENST00000460696.1:n.2745-31_2745-30insTGT
ENST00000478423.6:n.3729-31_3729-30insTGT
ENST00000489180.6:c.*1808-31_*1808-30insTGT	ENSP00000423747.1:n.*1808-31_*1808-30insTGT
NM_001291593.1:c.2458-31_2458-30insTGT	NP_001278522.1:n.2458-31_2458-30insTGT
NM_001291594.1:c.2461-31_2461-30insTGT	NP_001278523.1:n.2461-31_2461-30insTGT
NM_015102.4:c.3997-31_3997-30insTGT	NP_055917.1:n.3997-31_3997-30insTGT
NR_111987.1:n.4812-31_4812-30insTGT
XM_006710563.2:c.3997-31_3997-30insTGT	XP_006710626.1:n.3997-31_3997-30insTGT
XM_006710565.2:c.3997-31_3997-30insTGT	XP_006710628.1:n.3997-31_3997-30insTGT
XM_011541213.1:c.3994-31_3994-30insTGT	XP_011539515.1:n.3994-31_3994-30insTGT
XM_011541214.1:c.3955-31_3955-30insTGT	XP_011539516.1:n.3955-31_3955-30insTGT
XM_011541215.1:c.3886-31_3886-30insTGT	XP_011539517.1:n.3886-31_3886-30insTGT
XM_011541216.1:c.3997-31_3997-30insTGT	XP_011539518.1:n.3997-31_3997-30insTGT
XM_011541217.1:c.3997-31_3997-30insTGT	XP_011539519.1:n.3997-31_3997-30insTGT
XM_011541218.1:c.3997-31_3997-30insTGT	XP_011539520.1:n.3997-31_3997-30insTGT
XM_011541219.1:c.3943-31_3943-30insTGT	XP_011539521.1:n.3943-31_3943-30insTGT
XM_006710563.3:c.3997-31_3997-30insTGT	XP_006710626.1:n.3997-31_3997-30insTGT
XM_011541216.2:c.3997-31_3997-30insTGT	XP_011539518.1:n.3997-31_3997-30insTGT
XM_011541217.2:c.3997-31_3997-30insTGT	XP_011539519.1:n.3997-31_3997-30insTGT
XM_011541218.2:c.3997-31_3997-30insTGT	XP_011539520.1:n.3997-31_3997-30insTGT
XM_017000996.1:c.3952-31_3952-30insTGT	XP_016856485.1:n.3952-31_3952-30insTGT
XM_017000997.1:c.3997-31_3997-30insTGT	XP_016856486.1:n.3997-31_3997-30insTGT
XM_017000999.1:c.3469-31_3469-30insTGT	XP_016856488.1:n.3469-31_3469-30insTGT
XM_017001000.2:c.3469-31_3469-30insTGT	XP_016856489.1:n.3469-31_3469-30insTGT
XM_017001001.1:c.3199-31_3199-30insTGT	XP_016856490.1:n.3199-31_3199-30insTGT
XM_017001003.1:c.2458-31_2458-30insTGT	XP_016856492.1:n.2458-31_2458-30insTGT
XR_001737114.1:n.3863-31_3863-30insTGT
XR_001737115.1:n.3848-31_3848-30insTGT
NM_015102.5:c.3997-31_3997-30insTGT MANE Select	NP_055917.1:n.3997-31_3997-30insTGT
NM_001291593.2:c.2458-31_2458-30insTGT	NP_001278522.1:n.2458-31_2458-30insTGT
NM_001291594.2:c.2461-31_2461-30insTGT	NP_001278523.1:n.2461-31_2461-30insTGT
NR_111987.2:n.4764-31_4764-30insTGT