Canonical Allele Identifier: CA2333850810
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849259_35849260delinsAG , CM000681.2:g.35849259_35849260delinsAG GRCh38
NC_000019.9:g.36340161_36340162delinsAG , CM000681.1:g.36340161_36340162delinsAG GRCh37
NC_000019.8:g.41032001_41032002delinsAG NCBI36
NG_013356.2:g.25028_25029delinsCT , LRG_693:g.25028_25029delinsCT
NG_051206.1:g.2625_2626delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.816_817delinsCT MANE Select ENSP00000368190.4:p.Pro272=
ENST00000353632.6:c.816_817delinsCT ENSP00000343634.5:p.Pro272=
ENST00000378910.9:c.816_817delinsCT ENSP00000368190.4:p.Pro272=
NM_004646.3:c.816_817delinsCT , LRG_693t1:c.816_817delinsCT NP_004637.1:p.Pro272=
NM_004646.4:c.816_817delinsCT MANE Select NP_004637.1:p.Pro272=
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