Canonical Allele Identifier: CA658822853
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558528
ClinVar RCV Id: RCV000674814
dbSNP Id: rs1553312159

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)