Canonical Allele Identifier: CA17136846

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5875335dup , CM000663.2:g.5875335dup	GRCh38
NC_000001.10:g.5935395dup , CM000663.1:g.5935395dup	GRCh37
NC_000001.9:g.5857982dup	NCBI36
NG_011724.2:g.122137dup

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2818-235dup MANE Select	NP_055917.1:n.2818-235dup
ENST00000378156.9:c.2818-235dup MANE Select	ENSP00000367398.4:n.2818-235dup
NM_001291593.1:c.1279-235dup	NP_001278522.1:n.1279-235dup
NM_001291593.2:c.1279-235dup	NP_001278522.1:n.1279-235dup
NM_001291594.1:c.1282-235dup	NP_001278523.1:n.1282-235dup
NM_001291594.2:c.1282-235dup	NP_001278523.1:n.1282-235dup
NM_015102.4:c.2818-235dup	NP_055917.1:n.2818-235dup
NR_111987.1:n.3633-235dup
NR_111987.2:n.3585-235dup
ENST00000378156.8:c.2818-235dup	ENSP00000367398.4:n.2818-235dup
ENST00000378169.7:c.*1719-235dup	ENSP00000367411.3:n.*1719-235dup
ENST00000478423.6:n.2550-235dup
ENST00000489180.6:c.*629-235dup	ENSP00000423747.1:n.*629-235dup
ENST00000506941.1:n.375-235dup
XM_006710563.2:c.2818-235dup	XP_006710626.1:n.2818-235dup
XM_006710563.3:c.2818-235dup	XP_006710626.1:n.2818-235dup
XM_006710565.2:c.2818-235dup	XP_006710628.1:n.2818-235dup
XM_011541213.1:c.2815-235dup	XP_011539515.1:n.2815-235dup
XM_011541214.1:c.2818-277dup	XP_011539516.1:n.2818-277dup
XM_011541215.1:c.2707-235dup	XP_011539517.1:n.2707-235dup
XM_011541216.1:c.2818-235dup	XP_011539518.1:n.2818-235dup
XM_011541216.2:c.2818-235dup	XP_011539518.1:n.2818-235dup
XM_011541217.1:c.2818-235dup	XP_011539519.1:n.2818-235dup
XM_011541217.2:c.2818-235dup	XP_011539519.1:n.2818-235dup
XM_011541218.1:c.2818-235dup	XP_011539520.1:n.2818-235dup
XM_011541218.2:c.2818-235dup	XP_011539520.1:n.2818-235dup
XM_011541219.1:c.2764-235dup	XP_011539521.1:n.2764-235dup
XM_011541220.1:c.2818-235dup	XP_011539522.1:n.2818-235dup
XM_017000996.1:c.2815-277dup	XP_016856485.1:n.2815-277dup
XM_017000997.1:c.2818-235dup	XP_016856486.1:n.2818-235dup
XM_017000998.1:c.2818-235dup	XP_016856487.1:n.2818-235dup
XM_017000999.1:c.2290-235dup	XP_016856488.1:n.2290-235dup
XM_017001000.2:c.2290-235dup	XP_016856489.1:n.2290-235dup
XM_017001001.1:c.2020-235dup	XP_016856490.1:n.2020-235dup
XM_017001002.1:c.*1186dup	XP_016856491.1:n.*1186dup
XM_017001003.1:c.1279-235dup	XP_016856492.1:n.1279-235dup
XR_001737114.1:n.2856-235dup
XR_001737115.1:n.2856-235dup
XR_946604.1:n.2856-235dup