Canonical Allele Identifier: CA2333850565
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848783_35848786delinsCACT , CM000681.2:g.35848783_35848786delinsCACT GRCh38
NC_000019.9:g.36339685_36339688delinsCACT , CM000681.1:g.36339685_36339688delinsCACT GRCh37
NC_000019.8:g.41031525_41031528delinsCACT NCBI36
NG_013356.2:g.25502_25505delinsAGTG , LRG_693:g.25502_25505delinsAGTG
NG_051206.1:g.2149_2152delinsCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1021_1024delinsAGTG MANE Select ENSP00000368190.4:p.Ser341=
ENST00000353632.6:c.1021_1024delinsAGTG ENSP00000343634.5:p.Ser341=
ENST00000378910.9:c.1021_1024delinsAGTG ENSP00000368190.4:p.Ser341=
ENST00000592132.1:n.28_31delinsAGTG
NM_004646.3:c.1021_1024delinsAGTG , LRG_693t1:c.1021_1024delinsAGTG NP_004637.1:p.Ser341=
NM_004646.4:c.1021_1024delinsAGTG MANE Select NP_004637.1:p.Ser341=
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