Canonical Allele Identifier: CA1151209251

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863984_5863999delinsCTCTTGTTGACACCCT , CM000663.2:g.5863984_5863999delinsCTCTTGTTGACACCCT	GRCh38
NC_000001.10:g.5924044_5924059delinsCTCTTGTTGACACCCT , CM000663.1:g.5924044_5924059delinsCTCTTGTTGACACCCT	GRCh37
NC_000001.9:g.5846631_5846646delinsCTCTTGTTGACACCCT	NCBI36
NG_011724.2:g.133473_133488delinsAGGGTGTCAACAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4031_4046delinsAGGGTGTCAACAAGAG MANE Select	ENSP00000367398.4:p.Lys1344=
ENST00000378156.8:c.4031_4046delinsAGGGTGTCAACAAGAG	ENSP00000367398.4:p.Lys1344=
ENST00000378161.5:n.3182_3197delinsAGGGTGTCAACAAGAG
ENST00000378169.7:c.*2932_*2947delinsAGGGTGTCAACAAGAG	ENSP00000367411.3:n.*2932_*2947delinsAGGGTGTCAACAAGAG
ENST00000460696.1:n.2779_2794delinsAGGGTGTCAACAAGAG
ENST00000478423.6:n.3763_3778delinsAGGGTGTCAACAAGAG
ENST00000489180.6:c.*1842_*1857delinsAGGGTGTCAACAAGAG	ENSP00000423747.1:n.*1842_*1857delinsAGGGTGTCAACAAGAG
NM_001291593.1:c.2492_2507delinsAGGGTGTCAACAAGAG	NP_001278522.1:p.Lys831=
NM_001291594.1:c.2495_2510delinsAGGGTGTCAACAAGAG	NP_001278523.1:p.Lys832=
NM_015102.4:c.4031_4046delinsAGGGTGTCAACAAGAG	NP_055917.1:p.Lys1344=
NR_111987.1:n.4846_4861delinsAGGGTGTCAACAAGAG
XM_006710563.2:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_006710626.1:p.Lys1344=
XM_006710565.2:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_006710628.1:p.Lys1344=
XM_011541213.1:c.4028_4043delinsAGGGTGTCAACAAGAG	XP_011539515.1:p.Lys1343=
XM_011541214.1:c.3989_4004delinsAGGGTGTCAACAAGAG	XP_011539516.1:p.Lys1330=
XM_011541215.1:c.3920_3935delinsAGGGTGTCAACAAGAG	XP_011539517.1:p.Lys1307=
XM_011541216.1:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_011539518.1:p.Lys1344=
XM_011541217.1:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_011539519.1:p.Lys1344=
XM_011541218.1:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_011539520.1:p.Lys1344=
XM_011541219.1:c.3977_3992delinsAGGGTGTCAACAAGAG	XP_011539521.1:p.Lys1326=
XM_006710563.3:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_006710626.1:p.Lys1344=
XM_011541216.2:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_011539518.1:p.Lys1344=
XM_011541217.2:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_011539519.1:p.Lys1344=
XM_011541218.2:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_011539520.1:p.Lys1344=
XM_017000996.1:c.3986_4001delinsAGGGTGTCAACAAGAG	XP_016856485.1:p.Lys1329=
XM_017000997.1:c.4031_4046delinsAGGGTGTCAACAAGAG	XP_016856486.1:p.Lys1344=
XM_017000999.1:c.3503_3518delinsAGGGTGTCAACAAGAG	XP_016856488.1:p.Lys1168=
XM_017001000.2:c.3503_3518delinsAGGGTGTCAACAAGAG	XP_016856489.1:p.Lys1168=
XM_017001001.1:c.3233_3248delinsAGGGTGTCAACAAGAG	XP_016856490.1:p.Lys1078=
XM_017001003.1:c.2492_2507delinsAGGGTGTCAACAAGAG	XP_016856492.1:p.Lys831=
XR_001737114.1:n.3897_3912delinsAGGGTGTCAACAAGAG
XR_001737115.1:n.3882_3897delinsAGGGTGTCAACAAGAG
NM_015102.5:c.4031_4046delinsAGGGTGTCAACAAGAG MANE Select	NP_055917.1:p.Lys1344=
NM_001291593.2:c.2492_2507delinsAGGGTGTCAACAAGAG	NP_001278522.1:p.Lys831=
NM_001291594.2:c.2495_2510delinsAGGGTGTCAACAAGAG	NP_001278523.1:p.Lys832=
NR_111987.2:n.4798_4813delinsAGGGTGTCAACAAGAG