Canonical Allele Identifier: CA2574188135

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863806-ACTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863810_5863813del , CM000663.2:g.5863810_5863813del	GRCh38
NC_000001.10:g.5923870_5923873del , CM000663.1:g.5923870_5923873del	GRCh37
NC_000001.9:g.5846457_5846460del	NCBI36
NG_011724.2:g.133662_133665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4140+80_4140+83del MANE Select	ENSP00000367398.4:n.4140+80_4140+83del
ENST00000378156.8:c.4140+80_4140+83del	ENSP00000367398.4:n.4140+80_4140+83del
ENST00000378161.5:n.3371_3374del
ENST00000378169.7:c.*3041+80_*3041+83del	ENSP00000367411.3:n.*3041+80_*3041+83del
ENST00000460696.1:n.2968_2971del
ENST00000478423.6:n.3872+80_3872+83del
ENST00000489180.6:c.*1951+80_*1951+83del	ENSP00000423747.1:n.*1951+80_*1951+83del
NM_001291593.1:c.2601+80_2601+83del	NP_001278522.1:n.2601+80_2601+83del
NM_001291594.1:c.2604+80_2604+83del	NP_001278523.1:n.2604+80_2604+83del
NM_015102.4:c.4140+80_4140+83del	NP_055917.1:n.4140+80_4140+83del
NR_111987.1:n.4955+80_4955+83del
XM_006710563.2:c.4140+80_4140+83del	XP_006710626.1:n.4140+80_4140+83del
XM_006710565.2:c.4140+80_4140+83del	XP_006710628.1:n.4140+80_4140+83del
XM_011541213.1:c.4137+80_4137+83del	XP_011539515.1:n.4137+80_4137+83del
XM_011541214.1:c.4098+80_4098+83del	XP_011539516.1:n.4098+80_4098+83del
XM_011541215.1:c.4029+80_4029+83del	XP_011539517.1:n.4029+80_4029+83del
XM_011541216.1:c.4140+80_4140+83del	XP_011539518.1:n.4140+80_4140+83del
XM_011541217.1:c.4140+80_4140+83del	XP_011539519.1:n.4140+80_4140+83del
XM_011541218.1:c.4140+80_4140+83del	XP_011539520.1:n.4140+80_4140+83del
XM_011541219.1:c.4086+80_4086+83del	XP_011539521.1:n.4086+80_4086+83del
XM_006710563.3:c.4140+80_4140+83del	XP_006710626.1:n.4140+80_4140+83del
XM_011541216.2:c.4140+80_4140+83del	XP_011539518.1:n.4140+80_4140+83del
XM_011541217.2:c.4140+80_4140+83del	XP_011539519.1:n.4140+80_4140+83del
XM_011541218.2:c.4140+80_4140+83del	XP_011539520.1:n.4140+80_4140+83del
XM_017000996.1:c.4095+80_4095+83del	XP_016856485.1:n.4095+80_4095+83del
XM_017000997.1:c.4140+80_4140+83del	XP_016856486.1:n.4140+80_4140+83del
XM_017000999.1:c.3612+80_3612+83del	XP_016856488.1:n.3612+80_3612+83del
XM_017001000.2:c.3612+80_3612+83del	XP_016856489.1:n.3612+80_3612+83del
XM_017001001.1:c.3342+80_3342+83del	XP_016856490.1:n.3342+80_3342+83del
XM_017001003.1:c.2601+80_2601+83del	XP_016856492.1:n.2601+80_2601+83del
XR_001737114.1:n.4006+80_4006+83del
XR_001737115.1:n.3991+80_3991+83del
NM_015102.5:c.4140+80_4140+83del MANE Select	NP_055917.1:n.4140+80_4140+83del
NM_001291593.2:c.2601+80_2601+83del	NP_001278522.1:n.2601+80_2601+83del
NM_001291594.2:c.2604+80_2604+83del	NP_001278523.1:n.2604+80_2604+83del
NR_111987.2:n.4907+80_4907+83del