LDH info

Canonical Allele Identifier: CA16040665
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370964
ClinVar RCV Id: RCV000411843
dbSNP Id: rs1057516900

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179551263dup , CM000663.2:g.179551263dup GRCh38
NC_000001.10:g.179520398dup , CM000663.1:g.179520398dup GRCh37
NC_000001.9:g.177787021dup NCBI36
NG_007535.1:g.29687dup , LRG_887:g.29687dup
NG_033075.1:g.190544dup

Transcript Alleles

HGVS Amino-acid change
NM_001297575.1:c.858dup (NPHS2) VV NP_001284504.1:p.Asn287GlnfsTer17
NM_014625.3:c.1062dup , LRG_887t1:c.1062dup (NPHS2) NP_055440.1:p.Asn355GlnfsTer17
NM_144696.5:c.3032-3249dup (AXDND1) VV NP_653297.3:p.=
NR_073544.1:n.3152-3249dup (AXDND1)
XM_005245483.2:c.885dup (NPHS2) XP_005245540.1:p.Asn296GlnfsTer17
XM_011509165.1:c.3038-3249dup (AXDND1) XP_011507467.1:p.=
XM_011509166.1:c.3038-3249dup (AXDND1) XP_011507468.1:p.=
XM_011509167.1:c.3038-3249dup (AXDND1) XP_011507469.1:p.=
XM_011509168.1:c.3038-3249dup (AXDND1) XP_011507470.1:p.=
XM_011509169.1:c.2975-3249dup (AXDND1) XP_011507471.1:p.=
XM_011509170.1:c.2930-3249dup (AXDND1) XP_011507472.1:p.=
XM_011509171.1:c.2912-3249dup (AXDND1) XP_011507473.1:p.=
XM_011509172.1:c.2912-3249dup (AXDND1) XP_011507474.1:p.=
XM_011509173.1:c.2912-3249dup (AXDND1) XP_011507475.1:p.=
XM_011509174.1:c.2816-3249dup (AXDND1) XP_011507476.1:p.=
XM_011509175.1:c.2810-3249dup (AXDND1) XP_011507477.1:p.=
XM_011509176.1:c.2741-3249dup (AXDND1) XP_011507478.1:p.=
XM_011509179.1:c.2402-3249dup (AXDND1) XP_011507481.1:p.=
XM_011509181.1:c.1961-3249dup (AXDND1) XP_011507483.1:p.=
XM_005245483.3:c.885dup (NPHS2) XP_005245540.1:p.Asn296GlnfsTer17
XM_011509166.3:c.3038-3249dup (AXDND1) XP_011507468.1:p.=
XM_011509167.3:c.3038-3249dup (AXDND1) XP_011507469.1:p.=
XM_011509179.2:c.2402-3249dup (AXDND1) XP_011507481.1:p.=
XM_011509181.2:c.1961-3249dup (AXDND1) XP_011507483.1:p.=
XM_017000257.2:c.2297-3249dup (AXDND1) XP_016855746.1:p.=
XM_017000258.2:c.2159-3249dup (AXDND1) XP_016855747.1:p.=
XM_017002298.1:c.729dup (NPHS2) XP_016857787.1:p.Asn244GlnfsTer17
XM_024453104.1:c.2912-3249dup (AXDND1) XP_024308872.1:p.=
XM_024453107.1:c.2912-3249dup (AXDND1) XP_024308875.1:p.=
NM_144696.6:c.3032-3249dup (AXDND1) VV NP_653297.3:p.=
ENST00000367615.8:c.1062dup ENSP00000356587.4:p.Asn355GlnfsTer17
ENST00000367616.4:c.858dup ENSP00000356588.4:p.Asn287GlnfsTer17
ENST00000367618.7:c.3032-3249dup ENSP00000356590.3:p.=
ENST00000434088.1:n.2612-3249dup ENSP00000391716.1:p.=
ENST00000457238.6:c.*1011-3249dup ENSP00000416712.3:p.=
ENST00000484455.1:n.471-3249dup
ENST00000484883.1:n.911-3249dup
ENST00000489080.1:n.197dup
ENST00000511157.5:c.*1301-3249dup ENSP00000424373.1:p.=
ENST00000617277.4:c.*1207-3249dup ENSP00000482167.1:p.=