Canonical Allele Identifier: CA17124935

Gene: NPHP4

Linked Data

• dbSNP Id: rs1014601879
• gnomAD v3: 1-5864131-C-CA
• gnomAD v4: 1-5864131-C-CA
• MyVariant Identifiers: chr1:g.5924191_5924192insA (hg19) ; chr1:g.5864131_5864132insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864131_5864132insA , CM000663.2:g.5864131_5864132insA	GRCh38
NC_000001.10:g.5924191_5924192insA , CM000663.1:g.5924191_5924192insA	GRCh37
NC_000001.9:g.5846778_5846779insA	NCBI36
NG_011724.2:g.133340_133341insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-99_3997-98insT MANE Select	ENSP00000367398.4:n.3997-99_3997-98insT
ENST00000378156.8:c.3997-99_3997-98insT	ENSP00000367398.4:n.3997-99_3997-98insT
ENST00000378161.5:n.3049_3050insT
ENST00000378169.7:c.*2898-99_*2898-98insT	ENSP00000367411.3:n.*2898-99_*2898-98insT
ENST00000460696.1:n.2745-99_2745-98insT
ENST00000478423.6:n.3729-99_3729-98insT
ENST00000489180.6:c.*1808-99_*1808-98insT	ENSP00000423747.1:n.*1808-99_*1808-98insT
NM_001291593.1:c.2458-99_2458-98insT	NP_001278522.1:n.2458-99_2458-98insT
NM_001291594.1:c.2461-99_2461-98insT	NP_001278523.1:n.2461-99_2461-98insT
NM_015102.4:c.3997-99_3997-98insT	NP_055917.1:n.3997-99_3997-98insT
NR_111987.1:n.4812-99_4812-98insT
XM_006710563.2:c.3997-99_3997-98insT	XP_006710626.1:n.3997-99_3997-98insT
XM_006710565.2:c.3997-99_3997-98insT	XP_006710628.1:n.3997-99_3997-98insT
XM_011541213.1:c.3994-99_3994-98insT	XP_011539515.1:n.3994-99_3994-98insT
XM_011541214.1:c.3955-99_3955-98insT	XP_011539516.1:n.3955-99_3955-98insT
XM_011541215.1:c.3886-99_3886-98insT	XP_011539517.1:n.3886-99_3886-98insT
XM_011541216.1:c.3997-99_3997-98insT	XP_011539518.1:n.3997-99_3997-98insT
XM_011541217.1:c.3997-99_3997-98insT	XP_011539519.1:n.3997-99_3997-98insT
XM_011541218.1:c.3997-99_3997-98insT	XP_011539520.1:n.3997-99_3997-98insT
XM_011541219.1:c.3943-99_3943-98insT	XP_011539521.1:n.3943-99_3943-98insT
XM_006710563.3:c.3997-99_3997-98insT	XP_006710626.1:n.3997-99_3997-98insT
XM_011541216.2:c.3997-99_3997-98insT	XP_011539518.1:n.3997-99_3997-98insT
XM_011541217.2:c.3997-99_3997-98insT	XP_011539519.1:n.3997-99_3997-98insT
XM_011541218.2:c.3997-99_3997-98insT	XP_011539520.1:n.3997-99_3997-98insT
XM_017000996.1:c.3952-99_3952-98insT	XP_016856485.1:n.3952-99_3952-98insT
XM_017000997.1:c.3997-99_3997-98insT	XP_016856486.1:n.3997-99_3997-98insT
XM_017000999.1:c.3469-99_3469-98insT	XP_016856488.1:n.3469-99_3469-98insT
XM_017001000.2:c.3469-99_3469-98insT	XP_016856489.1:n.3469-99_3469-98insT
XM_017001001.1:c.3199-99_3199-98insT	XP_016856490.1:n.3199-99_3199-98insT
XM_017001003.1:c.2458-99_2458-98insT	XP_016856492.1:n.2458-99_2458-98insT
XR_001737114.1:n.3863-99_3863-98insT
XR_001737115.1:n.3848-99_3848-98insT
NM_015102.5:c.3997-99_3997-98insT MANE Select	NP_055917.1:n.3997-99_3997-98insT
NM_001291593.2:c.2458-99_2458-98insT	NP_001278522.1:n.2458-99_2458-98insT
NM_001291594.2:c.2461-99_2461-98insT	NP_001278523.1:n.2461-99_2461-98insT
NR_111987.2:n.4764-99_4764-98insT