Canonical Allele Identifier: CA2499214948
Community Standard Title: NM_001128178.3(NPHP1):c.1379dup (p.Thr461TyrfsTer4)
Gene: NPHP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110144544dup , CM000664.2:g.110144544dup GRCh38
NC_000002.11:g.110902121dup , CM000664.1:g.110902121dup GRCh37
NC_000002.10:g.110259410dup NCBI36
NG_008287.1:g.65520dup

Transcript Alleles

HGVS Amino-acid Change
NM_001128178.3:c.1379dup MANE Select NP_001121650.1:p.Thr461TyrfsTer4
ENST00000445609.7:c.1379dup MANE Select ENSP00000389879.3:p.Thr461TyrfsTer4
NM_000272.3:c.1547dup NP_000263.2:p.Thr517TyrfsTer4
NM_000272.4:c.1547dup NP_000263.2:p.Thr517TyrfsTer4
NM_000272.5:c.1547dup NP_000263.2:p.Thr517TyrfsTer4
NM_001128178.1:c.1379dup NP_001121650.1:p.Thr461TyrfsTer4
NM_001128179.1:c.1190dup NP_001121651.1:p.Thr398TyrfsTer4
NM_001128179.2:c.1190dup NP_001121651.1:p.Thr398TyrfsTer4
NM_001128179.3:c.1190dup NP_001121651.1:p.Thr398TyrfsTer4
NM_001374256.1:c.1376dup NP_001361185.1:p.Thr460TyrfsTer4
NM_001374257.1:c.1379dup NP_001361186.1:p.Thr461TyrfsTer4
NM_207181.2:c.1544dup NP_997064.2:p.Thr516TyrfsTer4
NM_207181.3:c.1544dup NP_997064.2:p.Thr516TyrfsTer4
NM_207181.4:c.1544dup NP_997064.2:p.Thr516TyrfsTer4
ENST00000316534.8:c.1547dup ENSP00000313169.4:p.Thr517TyrfsTer4
ENST00000355301.8:c.1190dup ENSP00000347452.4:p.Thr398TyrfsTer4
ENST00000393272.7:c.1544dup ENSP00000376953.3:p.Thr516TyrfsTer4
ENST00000417665.5:c.1376dup ENSP00000402176.1:p.Thr460TyrfsTer4
ENST00000445609.6:c.1379dup ENSP00000389879.2:p.Thr461TyrfsTer4
ENST00000461707.5:n.2964dup
ENST00000493051.1:n.6dup
ENST00000496524.5:n.2980dup
ENST00000674677.1:c.1424dup ENSP00000502265.1:p.Thr476TyrfsTer4
ENST00000675067.1:c.578dup ENSP00000502817.1:p.Thr194TyrfsTer4
ENST00000675356.1:n.2057dup
ENST00000675632.1:n.2783dup
ENST00000675752.1:n.3082dup
ENST00000676028.1:c.1196dup ENSP00000502639.1:p.Thr400TyrfsTer4
ENST00000676053.1:c.1190dup ENSP00000502475.1:p.Thr398TyrfsTer4
ENST00000676091.1:c.575dup ENSP00000502528.1:p.Thr193TyrfsTer4
ENST00000676165.1:n.3042dup
ENST00000676258.1:n.2470dup
XM_005263675.1:c.1544dup XP_005263732.1:p.Thr516TyrfsTer4
XM_005263676.1:c.1379dup XP_005263733.1:p.Thr461TyrfsTer4
XM_005263677.1:c.1376dup XP_005263734.1:p.Thr460TyrfsTer4
XM_005263678.2:c.1547dup XP_005263735.1:p.Thr517TyrfsTer4
XM_005263679.1:c.1376dup XP_005263736.1:p.Thr460TyrfsTer4
XM_006712551.1:c.1547dup XP_006712614.1:p.Thr517TyrfsTer4
XM_011511244.1:c.1547dup XP_011509546.1:p.Thr517TyrfsTer4
XM_017004218.1:c.1379dup XP_016859707.1:p.Thr461TyrfsTer4