Canonical Allele Identifier: CA2642901858

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863919-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863921_5863922del , CM000663.2:g.5863921_5863922del	GRCh38
NC_000001.10:g.5923981_5923982del , CM000663.1:g.5923981_5923982del	GRCh37
NC_000001.9:g.5846568_5846569del	NCBI36
NG_011724.2:g.133551_133552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4109_4110del MANE Select	ENSP00000367398.4:p.Glu1370AlafsTer26
ENST00000378156.8:c.4109_4110del	ENSP00000367398.4:p.Glu1370AlafsTer26
ENST00000378161.5:n.3260_3261del
ENST00000378169.7:c.*3010_*3011del	ENSP00000367411.3:n.*3010_*3011del
ENST00000460696.1:n.2857_2858del
ENST00000478423.6:n.3841_3842del
ENST00000489180.6:c.*1920_*1921del	ENSP00000423747.1:n.*1920_*1921del
NM_001291593.1:c.2570_2571del	NP_001278522.1:p.Glu857AlafsTer26
NM_001291594.1:c.2573_2574del	NP_001278523.1:p.Glu858AlafsTer26
NM_015102.4:c.4109_4110del	NP_055917.1:p.Glu1370AlafsTer26
NR_111987.1:n.4924_4925del
XM_006710563.2:c.4109_4110del	XP_006710626.1:p.Glu1370AlafsTer26
XM_006710565.2:c.4109_4110del	XP_006710628.1:p.Glu1370AlafsTer26
XM_011541213.1:c.4106_4107del	XP_011539515.1:p.Glu1369AlafsTer26
XM_011541214.1:c.4067_4068del	XP_011539516.1:p.Glu1356AlafsTer26
XM_011541215.1:c.3998_3999del	XP_011539517.1:p.Glu1333AlafsTer26
XM_011541216.1:c.4109_4110del	XP_011539518.1:p.Glu1370AlafsTer26
XM_011541217.1:c.4109_4110del	XP_011539519.1:p.Glu1370AlafsTer26
XM_011541218.1:c.4109_4110del	XP_011539520.1:p.Glu1370AlafsTer26
XM_011541219.1:c.4055_4056del	XP_011539521.1:p.Glu1352AlafsTer26
XM_006710563.3:c.4109_4110del	XP_006710626.1:p.Glu1370AlafsTer26
XM_011541216.2:c.4109_4110del	XP_011539518.1:p.Glu1370AlafsTer26
XM_011541217.2:c.4109_4110del	XP_011539519.1:p.Glu1370AlafsTer26
XM_011541218.2:c.4109_4110del	XP_011539520.1:p.Glu1370AlafsTer26
XM_017000996.1:c.4064_4065del	XP_016856485.1:p.Glu1355AlafsTer26
XM_017000997.1:c.4109_4110del	XP_016856486.1:p.Glu1370AlafsTer26
XM_017000999.1:c.3581_3582del	XP_016856488.1:p.Glu1194AlafsTer26
XM_017001000.2:c.3581_3582del	XP_016856489.1:p.Glu1194AlafsTer26
XM_017001001.1:c.3311_3312del	XP_016856490.1:p.Glu1104AlafsTer26
XM_017001003.1:c.2570_2571del	XP_016856492.1:p.Glu857AlafsTer26
XR_001737114.1:n.3975_3976del
XR_001737115.1:n.3960_3961del
NM_015102.5:c.4109_4110del MANE Select	NP_055917.1:p.Glu1370AlafsTer26
NM_001291593.2:c.2570_2571del	NP_001278522.1:p.Glu857AlafsTer26
NM_001291594.2:c.2573_2574del	NP_001278523.1:p.Glu858AlafsTer26
NR_111987.2:n.4876_4877del