Linked Data
ClinVar Variation Id:
188823
ClinVar RCV Id:
RCV000169166
RCV001003813
RCV000730521
RCV001273611
RCV001171356
RCV001849326
RCV003398864
dbSNP Id:
rs749740335
ExAC:
1:179521754 CTT / C
gnomAD v2:
1-179521754-CTT-C
gnomAD v3:
1-179552619-CTT-C
gnomAD v4:
1-179552619-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179552621_179552622del , CM000663.2:g.179552621_179552622del | GRCh38 |
| NC_000001.10:g.179521756_179521757del , CM000663.1:g.179521756_179521757del | GRCh37 |
| NC_000001.9:g.177788379_177788380del | NCBI36 |
| NG_007535.1:g.28329_28330del , LRG_887:g.28329_28330del | |
| NG_033075.1:g.191902_191903del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.855_856del (NPHS2) MANE Select | ENSP00000356587.4:p.Arg286ThrfsTer17 | |
| ENST00000367618.8:c.3032-1891_3032-1890del (AXDND1) MANE Select | ENSP00000356590.3:n.3032-1891_3032-1890del | |
| ENST00000367615.8:c.855_856del (NPHS2) | ENSP00000356587.4:p.Arg286ThrfsTer17 | |
| ENST00000367616.4:c.651_652del (NPHS2) | ENSP00000356588.4:p.Arg218ThrfsTer17 | |
| ENST00000367618.7:c.3032-1891_3032-1890del (AXDND1) | ENSP00000356590.3:n.3032-1891_3032-1890del | |
| ENST00000434088.1:c.2612-1891_2612-1890del (AXDND1) | ENSP00000391716.1:n.2612-1891_2612-1890del | |
| ENST00000457238.6:c.*1011-1891_*1011-1890del (AXDND1) | ENSP00000416712.3:n.*1011-1891_*1011-1890del | |
| ENST00000484455.1:n.471-1891_471-1890del (AXDND1) | ||
| ENST00000484883.1:n.911-1891_911-1890del (AXDND1) | ||
| ENST00000489080.1:n.1555_1556del (AXDND1) | ||
| ENST00000511157.5:c.*1301-1891_*1301-1890del (AXDND1) | ENSP00000424373.1:n.*1301-1891_*1301-1890del | |
| ENST00000617277.4:c.*1207-1891_*1207-1890del (AXDND1) | ENSP00000482167.1:n.*1207-1891_*1207-1890del | |
| NM_001297575.1:c.651_652del (NPHS2) | NP_001284504.1:p.Arg218ThrfsTer17 | |
| NM_014625.3:c.855_856del , LRG_887t1:c.855_856del (NPHS2) | NP_055440.1:p.Arg286ThrfsTer17 | |
| NM_144696.5:c.3032-1891_3032-1890del (AXDND1) | NP_653297.3:n.3032-1891_3032-1890del | |
| NR_073544.1:n.3152-1891_3152-1890del (AXDND1) | ||
| XM_005245483.2:c.678_679del (NPHS2) | XP_005245540.1:p.Arg227ThrfsTer17 | |
| XM_006711529.2:c.855_856del (NPHS2) | XP_006711592.1:p.Arg286ThrfsTer20 | |
| XM_011509165.1:c.3038-1891_3038-1890del (AXDND1) | XP_011507467.1:n.3038-1891_3038-1890del | |
| XM_011509166.1:c.3038-1891_3038-1890del (AXDND1) | XP_011507468.1:n.3038-1891_3038-1890del | |
| XM_011509167.1:c.3038-1891_3038-1890del (AXDND1) | XP_011507469.1:n.3038-1891_3038-1890del | |
| XM_011509168.1:c.3038-1891_3038-1890del (AXDND1) | XP_011507470.1:n.3038-1891_3038-1890del | |
| XM_011509169.1:c.2975-1891_2975-1890del (AXDND1) | XP_011507471.1:n.2975-1891_2975-1890del | |
| XM_011509170.1:c.2930-1891_2930-1890del (AXDND1) | XP_011507472.1:n.2930-1891_2930-1890del | |
| XM_011509171.1:c.2912-1891_2912-1890del (AXDND1) | XP_011507473.1:n.2912-1891_2912-1890del | |
| XM_011509172.1:c.2912-1891_2912-1890del (AXDND1) | XP_011507474.1:n.2912-1891_2912-1890del | |
| XM_011509173.1:c.2912-1891_2912-1890del (AXDND1) | XP_011507475.1:n.2912-1891_2912-1890del | |
| XM_011509174.1:c.2816-1891_2816-1890del (AXDND1) | XP_011507476.1:n.2816-1891_2816-1890del | |
| XM_011509175.1:c.2810-1891_2810-1890del (AXDND1) | XP_011507477.1:n.2810-1891_2810-1890del | |
| XM_011509176.1:c.2741-1891_2741-1890del (AXDND1) | XP_011507478.1:n.2741-1891_2741-1890del | |
| XM_011509179.1:c.2402-1891_2402-1890del (AXDND1) | XP_011507481.1:n.2402-1891_2402-1890del | |
| XM_011509181.1:c.1961-1891_1961-1890del (AXDND1) | XP_011507483.1:n.1961-1891_1961-1890del | |
| XM_005245483.3:c.678_679del (NPHS2) | XP_005245540.1:p.Arg227ThrfsTer17 | |
| XM_011509166.3:c.3038-1891_3038-1890del (AXDND1) | XP_011507468.1:n.3038-1891_3038-1890del | |
| XM_011509167.3:c.3038-1891_3038-1890del (AXDND1) | XP_011507469.1:n.3038-1891_3038-1890del | |
| XM_011509179.2:c.2402-1891_2402-1890del (AXDND1) | XP_011507481.1:n.2402-1891_2402-1890del | |
| XM_011509181.2:c.1961-1891_1961-1890del (AXDND1) | XP_011507483.1:n.1961-1891_1961-1890del | |
| XM_017000257.2:c.2297-1891_2297-1890del (AXDND1) | XP_016855746.1:n.2297-1891_2297-1890del | |
| XM_017000258.2:c.2159-1891_2159-1890del (AXDND1) | XP_016855747.1:n.2159-1891_2159-1890del | |
| XM_017002298.1:c.522_523del (NPHS2) | XP_016857787.1:p.Arg175ThrfsTer17 | |
| XM_017002299.1:c.*58_*59del (NPHS2) | XP_016857788.1:n.*58_*59del | |
| XM_024453104.1:c.2912-1891_2912-1890del (AXDND1) | XP_024308872.1:n.2912-1891_2912-1890del | |
| XM_024453107.1:c.2912-1891_2912-1890del (AXDND1) | XP_024308875.1:n.2912-1891_2912-1890del | |
| NM_144696.6:c.3032-1891_3032-1890del (AXDND1) MANE Select | NP_653297.3:n.3032-1891_3032-1890del | |
| NM_001297575.2:c.651_652del (NPHS2) | NP_001284504.1:p.Arg218ThrfsTer17 | |
| NM_014625.4:c.855_856del (NPHS2) MANE Select | NP_055440.1:p.Arg286ThrfsTer17 | |
| NR_073544.2:n.3080-1891_3080-1890del (AXDND1) |