Canonical Allele Identifier: CA2333850814
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849272_35849273delinsTC , CM000681.2:g.35849272_35849273delinsTC GRCh38
NC_000019.9:g.36340174_36340175delinsTC , CM000681.1:g.36340174_36340175delinsTC GRCh37
NC_000019.8:g.41032014_41032015delinsTC NCBI36
NG_013356.2:g.25015_25016delinsGA , LRG_693:g.25015_25016delinsGA
NG_051206.1:g.2638_2639delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.803_804delinsGA MANE Select ENSP00000368190.4:p.Arg268=
ENST00000353632.6:c.803_804delinsGA ENSP00000343634.5:p.Arg268=
ENST00000378910.9:c.803_804delinsGA ENSP00000368190.4:p.Arg268=
NM_004646.3:c.803_804delinsGA , LRG_693t1:c.803_804delinsGA NP_004637.1:p.Arg268=
NM_004646.4:c.803_804delinsGA MANE Select NP_004637.1:p.Arg268=
Search 100 bp 5'
Search 100 bp 3'