LDH info

Canonical Allele Identifier: CA16040671
Gene: NPHS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370759
ClinVar RCV Id: RCV000411511
dbSNP Id: rs1057516747

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575723_179575727dup , CM000663.2:g.179575723_179575727dup GRCh38
NC_000001.10:g.179544858_179544862dup , CM000663.1:g.179544858_179544862dup GRCh37
NC_000001.9:g.177811481_177811485dup NCBI36
NG_007535.1:g.5223_5227dup , LRG_887:g.5223_5227dup

Transcript Alleles

HGVS Amino-acid change
NM_001297575.1:c.138_142dup VV NP_001284504.1:p.Ser48TrpfsTer?
NM_014625.3:c.138_142dup , LRG_887t1:c.138_142dup NP_055440.1:p.Ser48TrpfsTer?
XM_005245483.2:c.138_142dup XP_005245540.1:p.Ser48TrpfsTer?
XM_006711529.2:c.138_142dup XP_006711592.1:p.Ser48TrpfsTer?
XM_005245483.3:c.138_142dup XP_005245540.1:p.Ser48TrpfsTer?
XM_017002298.1:c.138_142dup XP_016857787.1:p.Ser48TrpfsTer?
XM_017002299.1:c.138_142dup XP_016857788.1:p.Ser48TrpfsTer?
NM_001297575.2:c.138_142dup VV NP_001284504.1:p.Ser48TrpfsTer?
NM_014625.4:c.138_142dup VV MANE Preferred NP_055440.1:p.Ser48TrpfsTer?
ENST00000367615.8:c.138_142dup ENSP00000356587.4:p.Ser48TrpfsTer?
ENST00000367616.4:c.138_142dup ENSP00000356588.4:p.Ser48TrpfsTer?