Canonical Allele Identifier: CA2333850815
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2135796
ClinVar RCV Id: RCV003048801
dbSNP Id: rs1973192570
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849273del , CM000681.2:g.35849273del GRCh38
NC_000019.9:g.36340175del , CM000681.1:g.36340175del GRCh37
NC_000019.8:g.41032015del NCBI36
NG_013356.2:g.25015del , LRG_693:g.25015del
NG_051206.1:g.2639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.803del MANE Select ENSP00000368190.4:p.Arg268GlnfsTer6
ENST00000353632.6:c.803del ENSP00000343634.5:p.Arg268GlnfsTer6
ENST00000378910.9:c.803del ENSP00000368190.4:p.Arg268GlnfsTer6
NM_004646.3:c.803del , LRG_693t1:c.803del NP_004637.1:p.Arg268GlnfsTer6
NM_004646.4:c.803del MANE Select NP_004637.1:p.Arg268GlnfsTer6
Search 100 bp 5'
Search 100 bp 3'