Canonical Allele Identifier: CA2742301576

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864133_5864143del , CM000663.2:g.5864133_5864143del	GRCh38
NC_000001.10:g.5924193_5924203del , CM000663.1:g.5924193_5924203del	GRCh37
NC_000001.9:g.5846780_5846790del	NCBI36
NG_011724.2:g.133329_133339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-110_3997-100del MANE Select	ENSP00000367398.4:n.3997-110_3997-100del
ENST00000378156.8:c.3997-110_3997-100del	ENSP00000367398.4:n.3997-110_3997-100del
ENST00000378161.5:n.3038_3048del
ENST00000378169.7:c.*2898-110_*2898-100del	ENSP00000367411.3:n.*2898-110_*2898-100del
ENST00000460696.1:n.2745-110_2745-100del
ENST00000478423.6:n.3729-110_3729-100del
ENST00000489180.6:c.*1808-110_*1808-100del	ENSP00000423747.1:n.*1808-110_*1808-100del
NM_001291593.1:c.2458-110_2458-100del	NP_001278522.1:n.2458-110_2458-100del
NM_001291594.1:c.2461-110_2461-100del	NP_001278523.1:n.2461-110_2461-100del
NM_015102.4:c.3997-110_3997-100del	NP_055917.1:n.3997-110_3997-100del
NR_111987.1:n.4812-110_4812-100del
XM_006710563.2:c.3997-110_3997-100del	XP_006710626.1:n.3997-110_3997-100del
XM_006710565.2:c.3997-110_3997-100del	XP_006710628.1:n.3997-110_3997-100del
XM_011541213.1:c.3994-110_3994-100del	XP_011539515.1:n.3994-110_3994-100del
XM_011541214.1:c.3955-110_3955-100del	XP_011539516.1:n.3955-110_3955-100del
XM_011541215.1:c.3886-110_3886-100del	XP_011539517.1:n.3886-110_3886-100del
XM_011541216.1:c.3997-110_3997-100del	XP_011539518.1:n.3997-110_3997-100del
XM_011541217.1:c.3997-110_3997-100del	XP_011539519.1:n.3997-110_3997-100del
XM_011541218.1:c.3997-110_3997-100del	XP_011539520.1:n.3997-110_3997-100del
XM_011541219.1:c.3943-110_3943-100del	XP_011539521.1:n.3943-110_3943-100del
XM_006710563.3:c.3997-110_3997-100del	XP_006710626.1:n.3997-110_3997-100del
XM_011541216.2:c.3997-110_3997-100del	XP_011539518.1:n.3997-110_3997-100del
XM_011541217.2:c.3997-110_3997-100del	XP_011539519.1:n.3997-110_3997-100del
XM_011541218.2:c.3997-110_3997-100del	XP_011539520.1:n.3997-110_3997-100del
XM_017000996.1:c.3952-110_3952-100del	XP_016856485.1:n.3952-110_3952-100del
XM_017000997.1:c.3997-110_3997-100del	XP_016856486.1:n.3997-110_3997-100del
XM_017000999.1:c.3469-110_3469-100del	XP_016856488.1:n.3469-110_3469-100del
XM_017001000.2:c.3469-110_3469-100del	XP_016856489.1:n.3469-110_3469-100del
XM_017001001.1:c.3199-110_3199-100del	XP_016856490.1:n.3199-110_3199-100del
XM_017001003.1:c.2458-110_2458-100del	XP_016856492.1:n.2458-110_2458-100del
XR_001737114.1:n.3863-110_3863-100del
XR_001737115.1:n.3848-110_3848-100del
NM_015102.5:c.3997-110_3997-100del MANE Select	NP_055917.1:n.3997-110_3997-100del
NM_001291593.2:c.2458-110_2458-100del	NP_001278522.1:n.2458-110_2458-100del
NM_001291594.2:c.2461-110_2461-100del	NP_001278523.1:n.2461-110_2461-100del
NR_111987.2:n.4764-110_4764-100del