Canonical Allele Identifier: CA2742301597

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864164_5864257del , CM000663.2:g.5864164_5864257del	GRCh38
NC_000001.10:g.5924224_5924317del , CM000663.1:g.5924224_5924317del	GRCh37
NC_000001.9:g.5846811_5846904del	NCBI36
NG_011724.2:g.133215_133308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3996+81_3997-131del MANE Select	ENSP00000367398.4:n.3996+81_3997-131del
ENST00000378156.8:c.3996+81_3997-131del	ENSP00000367398.4:n.3996+81_3997-131del
ENST00000378161.5:n.2924_3017del
ENST00000378169.7:c.*2897+81_*2898-131del	ENSP00000367411.3:n.*2897+81_*2898-131del
ENST00000460696.1:n.2744+81_2745-131del
ENST00000478423.6:n.3728+81_3729-131del
ENST00000489180.6:c.*1807+81_*1808-131del	ENSP00000423747.1:n.*1807+81_*1808-131del
NM_001291593.1:c.2457+81_2458-131del	NP_001278522.1:n.2457+81_2458-131del
NM_001291594.1:c.2460+81_2461-131del	NP_001278523.1:n.2460+81_2461-131del
NM_015102.4:c.3996+81_3997-131del	NP_055917.1:n.3996+81_3997-131del
NR_111987.1:n.4811+81_4812-131del
XM_006710563.2:c.3996+81_3997-131del	XP_006710626.1:n.3996+81_3997-131del
XM_006710565.2:c.3996+81_3997-131del	XP_006710628.1:n.3996+81_3997-131del
XM_011541213.1:c.3993+81_3994-131del	XP_011539515.1:n.3993+81_3994-131del
XM_011541214.1:c.3954+81_3955-131del	XP_011539516.1:n.3954+81_3955-131del
XM_011541215.1:c.3885+81_3886-131del	XP_011539517.1:n.3885+81_3886-131del
XM_011541216.1:c.3996+81_3997-131del	XP_011539518.1:n.3996+81_3997-131del
XM_011541217.1:c.3996+81_3997-131del	XP_011539519.1:n.3996+81_3997-131del
XM_011541218.1:c.3996+81_3997-131del	XP_011539520.1:n.3996+81_3997-131del
XM_011541219.1:c.3942+81_3943-131del	XP_011539521.1:n.3942+81_3943-131del
XM_006710563.3:c.3996+81_3997-131del	XP_006710626.1:n.3996+81_3997-131del
XM_011541216.2:c.3996+81_3997-131del	XP_011539518.1:n.3996+81_3997-131del
XM_011541217.2:c.3996+81_3997-131del	XP_011539519.1:n.3996+81_3997-131del
XM_011541218.2:c.3996+81_3997-131del	XP_011539520.1:n.3996+81_3997-131del
XM_017000996.1:c.3951+81_3952-131del	XP_016856485.1:n.3951+81_3952-131del
XM_017000997.1:c.3996+81_3997-131del	XP_016856486.1:n.3996+81_3997-131del
XM_017000999.1:c.3468+81_3469-131del	XP_016856488.1:n.3468+81_3469-131del
XM_017001000.2:c.3468+81_3469-131del	XP_016856489.1:n.3468+81_3469-131del
XM_017001001.1:c.3198+81_3199-131del	XP_016856490.1:n.3198+81_3199-131del
XM_017001003.1:c.2457+81_2458-131del	XP_016856492.1:n.2457+81_2458-131del
XR_001737114.1:n.3862+81_3863-131del
XR_001737115.1:n.3847+81_3848-131del
NM_015102.5:c.3996+81_3997-131del MANE Select	NP_055917.1:n.3996+81_3997-131del
NM_001291593.2:c.2457+81_2458-131del	NP_001278522.1:n.2457+81_2458-131del
NM_001291594.2:c.2460+81_2461-131del	NP_001278523.1:n.2460+81_2461-131del
NR_111987.2:n.4763+81_4764-131del