Canonical Allele Identifier: CA1210317637
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179552621_179552622dup , CM000663.2:g.179552621_179552622dup GRCh38
NC_000001.10:g.179521756_179521757dup , CM000663.1:g.179521756_179521757dup GRCh37
NC_000001.9:g.177788379_177788380dup NCBI36
NG_007535.1:g.28329_28330dup , LRG_887:g.28329_28330dup
NG_033075.1:g.191902_191903dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.855_856dup (NPHS2) MANE Select ENSP00000356587.4:p.Arg286LysfsTer8
ENST00000367618.8:c.3032-1891_3032-1890dup (AXDND1) MANE Select ENSP00000356590.3:n.3032-1891_3032-1890dup
ENST00000367615.8:c.855_856dup (NPHS2) ENSP00000356587.4:p.Arg286LysfsTer8
ENST00000367616.4:c.651_652dup (NPHS2) ENSP00000356588.4:p.Arg218LysfsTer8
ENST00000367618.7:c.3032-1891_3032-1890dup (AXDND1) ENSP00000356590.3:n.3032-1891_3032-1890dup
ENST00000434088.1:c.2612-1891_2612-1890dup (AXDND1) ENSP00000391716.1:n.2612-1891_2612-1890dup
ENST00000457238.6:c.*1011-1891_*1011-1890dup (AXDND1) ENSP00000416712.3:n.*1011-1891_*1011-1890dup
ENST00000484455.1:n.471-1891_471-1890dup (AXDND1)
ENST00000484883.1:n.911-1891_911-1890dup (AXDND1)
ENST00000489080.1:n.1555_1556dup (AXDND1)
ENST00000511157.5:c.*1301-1891_*1301-1890dup (AXDND1) ENSP00000424373.1:n.*1301-1891_*1301-1890dup
ENST00000617277.4:c.*1207-1891_*1207-1890dup (AXDND1) ENSP00000482167.1:n.*1207-1891_*1207-1890dup
NM_001297575.1:c.651_652dup (NPHS2) NP_001284504.1:p.Arg218LysfsTer8
NM_014625.3:c.855_856dup , LRG_887t1:c.855_856dup (NPHS2) NP_055440.1:p.Arg286LysfsTer8
NM_144696.5:c.3032-1891_3032-1890dup (AXDND1) NP_653297.3:n.3032-1891_3032-1890dup
NR_073544.1:n.3152-1891_3152-1890dup (AXDND1)
XM_005245483.2:c.678_679dup (NPHS2) XP_005245540.1:p.Arg227LysfsTer8
XM_006711529.2:c.855_856dup (NPHS2) XP_006711592.1:p.Arg286LysfsTer27
XM_011509165.1:c.3038-1891_3038-1890dup (AXDND1) XP_011507467.1:n.3038-1891_3038-1890dup
XM_011509166.1:c.3038-1891_3038-1890dup (AXDND1) XP_011507468.1:n.3038-1891_3038-1890dup
XM_011509167.1:c.3038-1891_3038-1890dup (AXDND1) XP_011507469.1:n.3038-1891_3038-1890dup
XM_011509168.1:c.3038-1891_3038-1890dup (AXDND1) XP_011507470.1:n.3038-1891_3038-1890dup
XM_011509169.1:c.2975-1891_2975-1890dup (AXDND1) XP_011507471.1:n.2975-1891_2975-1890dup
XM_011509170.1:c.2930-1891_2930-1890dup (AXDND1) XP_011507472.1:n.2930-1891_2930-1890dup
XM_011509171.1:c.2912-1891_2912-1890dup (AXDND1) XP_011507473.1:n.2912-1891_2912-1890dup
XM_011509172.1:c.2912-1891_2912-1890dup (AXDND1) XP_011507474.1:n.2912-1891_2912-1890dup
XM_011509173.1:c.2912-1891_2912-1890dup (AXDND1) XP_011507475.1:n.2912-1891_2912-1890dup
XM_011509174.1:c.2816-1891_2816-1890dup (AXDND1) XP_011507476.1:n.2816-1891_2816-1890dup
XM_011509175.1:c.2810-1891_2810-1890dup (AXDND1) XP_011507477.1:n.2810-1891_2810-1890dup
XM_011509176.1:c.2741-1891_2741-1890dup (AXDND1) XP_011507478.1:n.2741-1891_2741-1890dup
XM_011509179.1:c.2402-1891_2402-1890dup (AXDND1) XP_011507481.1:n.2402-1891_2402-1890dup
XM_011509181.1:c.1961-1891_1961-1890dup (AXDND1) XP_011507483.1:n.1961-1891_1961-1890dup
XM_005245483.3:c.678_679dup (NPHS2) XP_005245540.1:p.Arg227LysfsTer8
XM_011509166.3:c.3038-1891_3038-1890dup (AXDND1) XP_011507468.1:n.3038-1891_3038-1890dup
XM_011509167.3:c.3038-1891_3038-1890dup (AXDND1) XP_011507469.1:n.3038-1891_3038-1890dup
XM_011509179.2:c.2402-1891_2402-1890dup (AXDND1) XP_011507481.1:n.2402-1891_2402-1890dup
XM_011509181.2:c.1961-1891_1961-1890dup (AXDND1) XP_011507483.1:n.1961-1891_1961-1890dup
XM_017000257.2:c.2297-1891_2297-1890dup (AXDND1) XP_016855746.1:n.2297-1891_2297-1890dup
XM_017000258.2:c.2159-1891_2159-1890dup (AXDND1) XP_016855747.1:n.2159-1891_2159-1890dup
XM_017002298.1:c.522_523dup (NPHS2) XP_016857787.1:p.Arg175LysfsTer8
XM_017002299.1:c.*58_*59dup (NPHS2) XP_016857788.1:n.*58_*59dup
XM_024453104.1:c.2912-1891_2912-1890dup (AXDND1) XP_024308872.1:n.2912-1891_2912-1890dup
XM_024453107.1:c.2912-1891_2912-1890dup (AXDND1) XP_024308875.1:n.2912-1891_2912-1890dup
NM_144696.6:c.3032-1891_3032-1890dup (AXDND1) MANE Select NP_653297.3:n.3032-1891_3032-1890dup
NM_001297575.2:c.651_652dup (NPHS2) NP_001284504.1:p.Arg218LysfsTer8
NM_014625.4:c.855_856dup (NPHS2) MANE Select NP_055440.1:p.Arg286LysfsTer8
NR_073544.2:n.3080-1891_3080-1890dup (AXDND1)
Search 100 bp 5'
Search 100 bp 3'