Canonical Allele Identifier: CA2580096871
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725578
ClinVar RCV Id: RCV002309262
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848066_35848067delinsT , CM000681.2:g.35848066_35848067delinsT GRCh38
NC_000019.9:g.36338968_36338969delinsT , CM000681.1:g.36338968_36338969delinsT GRCh37
NC_000019.8:g.41030808_41030809delinsT NCBI36
NG_013356.2:g.26221_26222delinsA , LRG_693:g.26221_26222delinsA
NG_051206.1:g.1432_1433delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1414_1415delinsA MANE Select ENSP00000368190.4:p.Pro472LysfsTer14
ENST00000353632.6:c.1414_1415delinsA ENSP00000343634.5:p.Pro472LysfsTer14
ENST00000378910.9:c.1414_1415delinsA ENSP00000368190.4:p.Pro472LysfsTer14
ENST00000592132.1:n.421_422delinsA
NM_004646.3:c.1414_1415delinsA , LRG_693t1:c.1414_1415delinsA NP_004637.1:p.Pro472LysfsTer14
NM_004646.4:c.1414_1415delinsA MANE Select NP_004637.1:p.Pro472LysfsTer14
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