Canonical Allele Identifier: CA2333850818
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849276_35849277delinsGC , CM000681.2:g.35849276_35849277delinsGC GRCh38
NC_000019.9:g.36340178_36340179delinsGC , CM000681.1:g.36340178_36340179delinsGC GRCh37
NC_000019.8:g.41032018_41032019delinsGC NCBI36
NG_013356.2:g.25011_25012delinsGC , LRG_693:g.25011_25012delinsGC
NG_051206.1:g.2642_2643delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.799_800delinsGC MANE Select ENSP00000368190.4:p.Ala267=
ENST00000353632.6:c.799_800delinsGC ENSP00000343634.5:p.Ala267=
ENST00000378910.9:c.799_800delinsGC ENSP00000368190.4:p.Ala267=
NM_004646.3:c.799_800delinsGC , LRG_693t1:c.799_800delinsGC NP_004637.1:p.Ala267=
NM_004646.4:c.799_800delinsGC MANE Select NP_004637.1:p.Ala267=
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