Linked Data
ClinVar Variation Id:
558528
ClinVar RCV Id:
RCV000674814
dbSNP Id:
rs1553312159
gnomAD v4:
1-179551190-CTTTCTT-C
MyVariant Identifiers:
chr1:g.179551191_179551196del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179551194_179551199del , CM000663.2:g.179551194_179551199del | GRCh38 |
| NC_000001.10:g.179520329_179520334del , CM000663.1:g.179520329_179520334del | GRCh37 |
| NC_000001.9:g.177786952_177786957del | NCBI36 |
| NG_007535.1:g.29754_29759del , LRG_887:g.29754_29759del | |
| NG_033075.1:g.190475_190480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.1129_1134del (NPHS2) MANE Select | ENSP00000356587.4:p.Lys377_Lys378del | |
| ENST00000367618.8:c.3032-3318_3032-3313del (AXDND1) MANE Select | ENSP00000356590.3:n.3032-3318_3032-3313del | |
| ENST00000367615.8:c.1129_1134del (NPHS2) | ENSP00000356587.4:p.Lys377_Lys378del | |
| ENST00000367616.4:c.925_930del (NPHS2) | ENSP00000356588.4:p.Lys309_Lys310del | |
| ENST00000367618.7:c.3032-3318_3032-3313del (AXDND1) | ENSP00000356590.3:n.3032-3318_3032-3313del | |
| ENST00000434088.1:c.2612-3318_2612-3313del (AXDND1) | ENSP00000391716.1:n.2612-3318_2612-3313del | |
| ENST00000457238.6:c.*1011-3318_*1011-3313del (AXDND1) | ENSP00000416712.3:n.*1011-3318_*1011-3313del | |
| ENST00000484455.1:n.471-3318_471-3313del (AXDND1) | ||
| ENST00000484883.1:n.911-3318_911-3313del (AXDND1) | ||
| ENST00000489080.1:n.128_133del (AXDND1) | ||
| ENST00000511157.5:c.*1301-3318_*1301-3313del (AXDND1) | ENSP00000424373.1:n.*1301-3318_*1301-3313del | |
| ENST00000617277.4:c.*1207-3318_*1207-3313del (AXDND1) | ENSP00000482167.1:n.*1207-3318_*1207-3313del | |
| NM_001297575.1:c.925_930del (NPHS2) | NP_001284504.1:p.Lys309_Lys310del | |
| NM_014625.3:c.1129_1134del , LRG_887t1:c.1129_1134del (NPHS2) | NP_055440.1:p.Lys377_Lys378del | |
| NM_144696.5:c.3032-3318_3032-3313del (AXDND1) | NP_653297.3:n.3032-3318_3032-3313del | |
| NR_073544.1:n.3152-3318_3152-3313del (AXDND1) | ||
| XM_005245483.2:c.952_957del (NPHS2) | XP_005245540.1:p.Lys318_Lys319del | |
| XM_011509165.1:c.3038-3318_3038-3313del (AXDND1) | XP_011507467.1:n.3038-3318_3038-3313del | |
| XM_011509166.1:c.3038-3318_3038-3313del (AXDND1) | XP_011507468.1:n.3038-3318_3038-3313del | |
| XM_011509167.1:c.3038-3318_3038-3313del (AXDND1) | XP_011507469.1:n.3038-3318_3038-3313del | |
| XM_011509168.1:c.3038-3318_3038-3313del (AXDND1) | XP_011507470.1:n.3038-3318_3038-3313del | |
| XM_011509169.1:c.2975-3318_2975-3313del (AXDND1) | XP_011507471.1:n.2975-3318_2975-3313del | |
| XM_011509170.1:c.2930-3318_2930-3313del (AXDND1) | XP_011507472.1:n.2930-3318_2930-3313del | |
| XM_011509171.1:c.2912-3318_2912-3313del (AXDND1) | XP_011507473.1:n.2912-3318_2912-3313del | |
| XM_011509172.1:c.2912-3318_2912-3313del (AXDND1) | XP_011507474.1:n.2912-3318_2912-3313del | |
| XM_011509173.1:c.2912-3318_2912-3313del (AXDND1) | XP_011507475.1:n.2912-3318_2912-3313del | |
| XM_011509174.1:c.2816-3318_2816-3313del (AXDND1) | XP_011507476.1:n.2816-3318_2816-3313del | |
| XM_011509175.1:c.2810-3318_2810-3313del (AXDND1) | XP_011507477.1:n.2810-3318_2810-3313del | |
| XM_011509176.1:c.2741-3318_2741-3313del (AXDND1) | XP_011507478.1:n.2741-3318_2741-3313del | |
| XM_011509179.1:c.2402-3318_2402-3313del (AXDND1) | XP_011507481.1:n.2402-3318_2402-3313del | |
| XM_011509181.1:c.1961-3318_1961-3313del (AXDND1) | XP_011507483.1:n.1961-3318_1961-3313del | |
| XM_005245483.3:c.952_957del (NPHS2) | XP_005245540.1:p.Lys318_Lys319del | |
| XM_011509166.3:c.3038-3318_3038-3313del (AXDND1) | XP_011507468.1:n.3038-3318_3038-3313del | |
| XM_011509167.3:c.3038-3318_3038-3313del (AXDND1) | XP_011507469.1:n.3038-3318_3038-3313del | |
| XM_011509179.2:c.2402-3318_2402-3313del (AXDND1) | XP_011507481.1:n.2402-3318_2402-3313del | |
| XM_011509181.2:c.1961-3318_1961-3313del (AXDND1) | XP_011507483.1:n.1961-3318_1961-3313del | |
| XM_017000257.2:c.2297-3318_2297-3313del (AXDND1) | XP_016855746.1:n.2297-3318_2297-3313del | |
| XM_017000258.2:c.2159-3318_2159-3313del (AXDND1) | XP_016855747.1:n.2159-3318_2159-3313del | |
| XM_017002298.1:c.796_801del (NPHS2) | XP_016857787.1:p.Lys266_Lys267del | |
| XM_024453104.1:c.2912-3318_2912-3313del (AXDND1) | XP_024308872.1:n.2912-3318_2912-3313del | |
| XM_024453107.1:c.2912-3318_2912-3313del (AXDND1) | XP_024308875.1:n.2912-3318_2912-3313del | |
| NM_144696.6:c.3032-3318_3032-3313del (AXDND1) MANE Select | NP_653297.3:n.3032-3318_3032-3313del | |
| NM_001297575.2:c.925_930del (NPHS2) | NP_001284504.1:p.Lys309_Lys310del | |
| NM_014625.4:c.1129_1134del (NPHS2) MANE Select | NP_055440.1:p.Lys377_Lys378del | |
| NR_073544.2:n.3080-3318_3080-3313del (AXDND1) |