Canonical Allele Identifier: CA2642901988

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5864153-A-ATAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864153_5864154insTAAGG , CM000663.2:g.5864153_5864154insTAAGG	GRCh38
NC_000001.10:g.5924213_5924214insTAAGG , CM000663.1:g.5924213_5924214insTAAGG	GRCh37
NC_000001.9:g.5846800_5846801insTAAGG	NCBI36
NG_011724.2:g.133318_133319insCCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-121_3997-120insCCTTA MANE Select	ENSP00000367398.4:n.3997-121_3997-120insCCTTA
ENST00000378156.8:c.3997-121_3997-120insCCTTA	ENSP00000367398.4:n.3997-121_3997-120insCCTTA
ENST00000378161.5:n.3027_3028insCCTTA
ENST00000378169.7:c.*2898-121_*2898-120insCCTTA	ENSP00000367411.3:n.*2898-121_*2898-120insCCTTA
ENST00000460696.1:n.2745-121_2745-120insCCTTA
ENST00000478423.6:n.3729-121_3729-120insCCTTA
ENST00000489180.6:c.*1808-121_*1808-120insCCTTA	ENSP00000423747.1:n.*1808-121_*1808-120insCCTTA
NM_001291593.1:c.2458-121_2458-120insCCTTA	NP_001278522.1:n.2458-121_2458-120insCCTTA
NM_001291594.1:c.2461-121_2461-120insCCTTA	NP_001278523.1:n.2461-121_2461-120insCCTTA
NM_015102.4:c.3997-121_3997-120insCCTTA	NP_055917.1:n.3997-121_3997-120insCCTTA
NR_111987.1:n.4812-121_4812-120insCCTTA
XM_006710563.2:c.3997-121_3997-120insCCTTA	XP_006710626.1:n.3997-121_3997-120insCCTTA
XM_006710565.2:c.3997-121_3997-120insCCTTA	XP_006710628.1:n.3997-121_3997-120insCCTTA
XM_011541213.1:c.3994-121_3994-120insCCTTA	XP_011539515.1:n.3994-121_3994-120insCCTTA
XM_011541214.1:c.3955-121_3955-120insCCTTA	XP_011539516.1:n.3955-121_3955-120insCCTTA
XM_011541215.1:c.3886-121_3886-120insCCTTA	XP_011539517.1:n.3886-121_3886-120insCCTTA
XM_011541216.1:c.3997-121_3997-120insCCTTA	XP_011539518.1:n.3997-121_3997-120insCCTTA
XM_011541217.1:c.3997-121_3997-120insCCTTA	XP_011539519.1:n.3997-121_3997-120insCCTTA
XM_011541218.1:c.3997-121_3997-120insCCTTA	XP_011539520.1:n.3997-121_3997-120insCCTTA
XM_011541219.1:c.3943-121_3943-120insCCTTA	XP_011539521.1:n.3943-121_3943-120insCCTTA
XM_006710563.3:c.3997-121_3997-120insCCTTA	XP_006710626.1:n.3997-121_3997-120insCCTTA
XM_011541216.2:c.3997-121_3997-120insCCTTA	XP_011539518.1:n.3997-121_3997-120insCCTTA
XM_011541217.2:c.3997-121_3997-120insCCTTA	XP_011539519.1:n.3997-121_3997-120insCCTTA
XM_011541218.2:c.3997-121_3997-120insCCTTA	XP_011539520.1:n.3997-121_3997-120insCCTTA
XM_017000996.1:c.3952-121_3952-120insCCTTA	XP_016856485.1:n.3952-121_3952-120insCCTTA
XM_017000997.1:c.3997-121_3997-120insCCTTA	XP_016856486.1:n.3997-121_3997-120insCCTTA
XM_017000999.1:c.3469-121_3469-120insCCTTA	XP_016856488.1:n.3469-121_3469-120insCCTTA
XM_017001000.2:c.3469-121_3469-120insCCTTA	XP_016856489.1:n.3469-121_3469-120insCCTTA
XM_017001001.1:c.3199-121_3199-120insCCTTA	XP_016856490.1:n.3199-121_3199-120insCCTTA
XM_017001003.1:c.2458-121_2458-120insCCTTA	XP_016856492.1:n.2458-121_2458-120insCCTTA
XR_001737114.1:n.3863-121_3863-120insCCTTA
XR_001737115.1:n.3848-121_3848-120insCCTTA
NM_015102.5:c.3997-121_3997-120insCCTTA MANE Select	NP_055917.1:n.3997-121_3997-120insCCTTA
NM_001291593.2:c.2458-121_2458-120insCCTTA	NP_001278522.1:n.2458-121_2458-120insCCTTA
NM_001291594.2:c.2461-121_2461-120insCCTTA	NP_001278523.1:n.2461-121_2461-120insCCTTA
NR_111987.2:n.4764-121_4764-120insCCTTA