Canonical Allele Identifier: CA1148867606

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863885_5863889delinsCACAC , CM000663.2:g.5863885_5863889delinsCACAC	GRCh38
NC_000001.10:g.5923945_5923949delinsCACAC , CM000663.1:g.5923945_5923949delinsCACAC	GRCh37
NC_000001.9:g.5846532_5846536delinsCACAC	NCBI36
NG_011724.2:g.133583_133587delinsGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4140+1_4140+5delinsGTGTG MANE Select	ENSP00000367398.4:n.4140+1_4140+5delinsGTGTG
ENST00000378156.8:c.4140+1_4140+5delinsGTGTG	ENSP00000367398.4:n.4140+1_4140+5delinsGTGTG
ENST00000378161.5:n.3292_3296delinsGTGTG
ENST00000378169.7:c.*3041+1_*3041+5delinsGTGTG	ENSP00000367411.3:n.*3041+1_*3041+5delinsGTGTG
ENST00000460696.1:n.2889_2893delinsGTGTG
ENST00000478423.6:n.3872+1_3872+5delinsGTGTG
ENST00000489180.6:c.*1951+1_*1951+5delinsGTGTG	ENSP00000423747.1:n.*1951+1_*1951+5delinsGTGTG
NM_001291593.1:c.2601+1_2601+5delinsGTGTG	NP_001278522.1:n.2601+1_2601+5delinsGTGTG
NM_001291594.1:c.2604+1_2604+5delinsGTGTG	NP_001278523.1:n.2604+1_2604+5delinsGTGTG
NM_015102.4:c.4140+1_4140+5delinsGTGTG	NP_055917.1:n.4140+1_4140+5delinsGTGTG
NR_111987.1:n.4955+1_4955+5delinsGTGTG
XM_006710563.2:c.4140+1_4140+5delinsGTGTG	XP_006710626.1:n.4140+1_4140+5delinsGTGTG
XM_006710565.2:c.4140+1_4140+5delinsGTGTG	XP_006710628.1:n.4140+1_4140+5delinsGTGTG
XM_011541213.1:c.4137+1_4137+5delinsGTGTG	XP_011539515.1:n.4137+1_4137+5delinsGTGTG
XM_011541214.1:c.4098+1_4098+5delinsGTGTG	XP_011539516.1:n.4098+1_4098+5delinsGTGTG
XM_011541215.1:c.4029+1_4029+5delinsGTGTG	XP_011539517.1:n.4029+1_4029+5delinsGTGTG
XM_011541216.1:c.4140+1_4140+5delinsGTGTG	XP_011539518.1:n.4140+1_4140+5delinsGTGTG
XM_011541217.1:c.4140+1_4140+5delinsGTGTG	XP_011539519.1:n.4140+1_4140+5delinsGTGTG
XM_011541218.1:c.4140+1_4140+5delinsGTGTG	XP_011539520.1:n.4140+1_4140+5delinsGTGTG
XM_011541219.1:c.4086+1_4086+5delinsGTGTG	XP_011539521.1:n.4086+1_4086+5delinsGTGTG
XM_006710563.3:c.4140+1_4140+5delinsGTGTG	XP_006710626.1:n.4140+1_4140+5delinsGTGTG
XM_011541216.2:c.4140+1_4140+5delinsGTGTG	XP_011539518.1:n.4140+1_4140+5delinsGTGTG
XM_011541217.2:c.4140+1_4140+5delinsGTGTG	XP_011539519.1:n.4140+1_4140+5delinsGTGTG
XM_011541218.2:c.4140+1_4140+5delinsGTGTG	XP_011539520.1:n.4140+1_4140+5delinsGTGTG
XM_017000996.1:c.4095+1_4095+5delinsGTGTG	XP_016856485.1:n.4095+1_4095+5delinsGTGTG
XM_017000997.1:c.4140+1_4140+5delinsGTGTG	XP_016856486.1:n.4140+1_4140+5delinsGTGTG
XM_017000999.1:c.3612+1_3612+5delinsGTGTG	XP_016856488.1:n.3612+1_3612+5delinsGTGTG
XM_017001000.2:c.3612+1_3612+5delinsGTGTG	XP_016856489.1:n.3612+1_3612+5delinsGTGTG
XM_017001001.1:c.3342+1_3342+5delinsGTGTG	XP_016856490.1:n.3342+1_3342+5delinsGTGTG
XM_017001003.1:c.2601+1_2601+5delinsGTGTG	XP_016856492.1:n.2601+1_2601+5delinsGTGTG
XR_001737114.1:n.4006+1_4006+5delinsGTGTG
XR_001737115.1:n.3991+1_3991+5delinsGTGTG
NM_015102.5:c.4140+1_4140+5delinsGTGTG MANE Select	NP_055917.1:n.4140+1_4140+5delinsGTGTG
NM_001291593.2:c.2601+1_2601+5delinsGTGTG	NP_001278522.1:n.2601+1_2601+5delinsGTGTG
NM_001291594.2:c.2604+1_2604+5delinsGTGTG	NP_001278523.1:n.2604+1_2604+5delinsGTGTG
NR_111987.2:n.4907+1_4907+5delinsGTGTG