Canonical Allele Identifier: CA2742301557

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864118_5864244del , CM000663.2:g.5864118_5864244del	GRCh38
NC_000001.10:g.5924178_5924304del , CM000663.1:g.5924178_5924304del	GRCh37
NC_000001.9:g.5846765_5846891del	NCBI36
NG_011724.2:g.133231_133357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3996+97_3997-82del MANE Select	ENSP00000367398.4:n.3996+97_3997-82del
ENST00000378156.8:c.3996+97_3997-82del	ENSP00000367398.4:n.3996+97_3997-82del
ENST00000378161.5:n.2940_3066del
ENST00000378169.7:c.*2897+97_*2898-82del	ENSP00000367411.3:n.*2897+97_*2898-82del
ENST00000460696.1:n.2744+97_2745-82del
ENST00000478423.6:n.3728+97_3729-82del
ENST00000489180.6:c.*1807+97_*1808-82del	ENSP00000423747.1:n.*1807+97_*1808-82del
NM_001291593.1:c.2457+97_2458-82del	NP_001278522.1:n.2457+97_2458-82del
NM_001291594.1:c.2460+97_2461-82del	NP_001278523.1:n.2460+97_2461-82del
NM_015102.4:c.3996+97_3997-82del	NP_055917.1:n.3996+97_3997-82del
NR_111987.1:n.4811+97_4812-82del
XM_006710563.2:c.3996+97_3997-82del	XP_006710626.1:n.3996+97_3997-82del
XM_006710565.2:c.3996+97_3997-82del	XP_006710628.1:n.3996+97_3997-82del
XM_011541213.1:c.3993+97_3994-82del	XP_011539515.1:n.3993+97_3994-82del
XM_011541214.1:c.3954+97_3955-82del	XP_011539516.1:n.3954+97_3955-82del
XM_011541215.1:c.3885+97_3886-82del	XP_011539517.1:n.3885+97_3886-82del
XM_011541216.1:c.3996+97_3997-82del	XP_011539518.1:n.3996+97_3997-82del
XM_011541217.1:c.3996+97_3997-82del	XP_011539519.1:n.3996+97_3997-82del
XM_011541218.1:c.3996+97_3997-82del	XP_011539520.1:n.3996+97_3997-82del
XM_011541219.1:c.3942+97_3943-82del	XP_011539521.1:n.3942+97_3943-82del
XM_006710563.3:c.3996+97_3997-82del	XP_006710626.1:n.3996+97_3997-82del
XM_011541216.2:c.3996+97_3997-82del	XP_011539518.1:n.3996+97_3997-82del
XM_011541217.2:c.3996+97_3997-82del	XP_011539519.1:n.3996+97_3997-82del
XM_011541218.2:c.3996+97_3997-82del	XP_011539520.1:n.3996+97_3997-82del
XM_017000996.1:c.3951+97_3952-82del	XP_016856485.1:n.3951+97_3952-82del
XM_017000997.1:c.3996+97_3997-82del	XP_016856486.1:n.3996+97_3997-82del
XM_017000999.1:c.3468+97_3469-82del	XP_016856488.1:n.3468+97_3469-82del
XM_017001000.2:c.3468+97_3469-82del	XP_016856489.1:n.3468+97_3469-82del
XM_017001001.1:c.3198+97_3199-82del	XP_016856490.1:n.3198+97_3199-82del
XM_017001003.1:c.2457+97_2458-82del	XP_016856492.1:n.2457+97_2458-82del
XR_001737114.1:n.3862+97_3863-82del
XR_001737115.1:n.3847+97_3848-82del
NM_015102.5:c.3996+97_3997-82del MANE Select	NP_055917.1:n.3996+97_3997-82del
NM_001291593.2:c.2457+97_2458-82del	NP_001278522.1:n.2457+97_2458-82del
NM_001291594.2:c.2460+97_2461-82del	NP_001278523.1:n.2460+97_2461-82del
NR_111987.2:n.4763+97_4764-82del