Canonical Allele Identifier: CA658820974

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5905355_5905358del , CM000663.2:g.5905355_5905358del	GRCh38
NC_000001.10:g.5965415_5965418del , CM000663.1:g.5965415_5965418del	GRCh37
NC_000001.9:g.5888002_5888005del	NCBI36
NG_011724.2:g.92114_92117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.1889_1892del MANE Select	ENSP00000367398.4:p.Pro630ArgfsTer?
ENST00000378156.8:c.1889_1892del	ENSP00000367398.4:p.Pro630ArgfsTer?
ENST00000378169.7:c.*790_*793del	ENSP00000367411.3:n.*790_*793del
ENST00000478423.6:n.1621_1624del
ENST00000489180.6:c.1886_1889del	ENSP00000423747.1:p.Pro629ArgfsTer?
ENST00000622020.4:c.1886_1889del	ENSP00000481831.2:p.Pro629ArgfsTer?
NM_001291593.1:c.350_353del	NP_001278522.1:p.Pro117ArgfsTer?
NM_001291594.1:c.353_356del	NP_001278523.1:p.Pro118ArgfsTer?
NM_015102.4:c.1889_1892del	NP_055917.1:p.Pro630ArgfsTer?
NR_111987.1:n.2154_2157del
XM_006710563.2:c.1889_1892del	XP_006710626.1:p.Pro630ArgfsTer?
XM_006710565.2:c.1889_1892del	XP_006710628.1:p.Pro630ArgfsTer?
XM_011541213.1:c.1886_1889del	XP_011539515.1:p.Pro629ArgfsTer?
XM_011541214.1:c.1889_1892del	XP_011539516.1:p.Pro630ArgfsTer?
XM_011541215.1:c.1778_1781del	XP_011539517.1:p.Pro593ArgfsTer?
XM_011541216.1:c.1889_1892del	XP_011539518.1:p.Pro630ArgfsTer?
XM_011541217.1:c.1889_1892del	XP_011539519.1:p.Pro630ArgfsTer?
XM_011541218.1:c.1889_1892del	XP_011539520.1:p.Pro630ArgfsTer?
XM_011541219.1:c.1835_1838del	XP_011539521.1:p.Pro612ArgfsTer?
XM_011541220.1:c.1889_1892del	XP_011539522.1:p.Pro630ArgfsTer?
XR_946604.1:n.1927_1930del
XR_946605.1:n.1927_1930del
XM_006710563.3:c.1889_1892del	XP_006710626.1:p.Pro630ArgfsTer?
XM_011541216.2:c.1889_1892del	XP_011539518.1:p.Pro630ArgfsTer?
XM_011541217.2:c.1889_1892del	XP_011539519.1:p.Pro630ArgfsTer?
XM_011541218.2:c.1889_1892del	XP_011539520.1:p.Pro630ArgfsTer?
XM_017000996.1:c.1886_1889del	XP_016856485.1:p.Pro629ArgfsTer?
XM_017000997.1:c.1889_1892del	XP_016856486.1:p.Pro630ArgfsTer?
XM_017000998.1:c.1889_1892del	XP_016856487.1:p.Pro630ArgfsTer?
XM_017000999.1:c.1361_1364del	XP_016856488.1:p.Pro454ArgfsTer?
XM_017001000.2:c.1361_1364del	XP_016856489.1:p.Pro454ArgfsTer?
XM_017001001.1:c.1091_1094del	XP_016856490.1:p.Pro364ArgfsTer?
XM_017001002.1:c.1889_1892del	XP_016856491.1:p.Pro630ArgfsTer?
XM_017001003.1:c.350_353del	XP_016856492.1:p.Pro117ArgfsTer?
XR_001737114.1:n.1927_1930del
XR_001737115.1:n.1927_1930del
NM_015102.5:c.1889_1892del MANE Select	NP_055917.1:p.Pro630ArgfsTer?
NM_001291593.2:c.350_353del	NP_001278522.1:p.Pro117ArgfsTer?
NM_001291594.2:c.353_356del	NP_001278523.1:p.Pro118ArgfsTer?
NR_111987.2:n.2106_2109del