Canonical Allele Identifier: CA2333850122
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848332_35848333delinsAC , CM000681.2:g.35848332_35848333delinsAC GRCh38
NC_000019.9:g.36339234_36339235delinsAC , CM000681.1:g.36339234_36339235delinsAC GRCh37
NC_000019.8:g.41031074_41031075delinsAC NCBI36
NG_013356.2:g.25955_25956delinsGT , LRG_693:g.25955_25956delinsGT
NG_051206.1:g.1698_1699delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1235_1236delinsGT MANE Select ENSP00000368190.4:p.Gly412=
ENST00000353632.6:c.1235_1236delinsGT ENSP00000343634.5:p.Gly412=
ENST00000378910.9:c.1235_1236delinsGT ENSP00000368190.4:p.Gly412=
ENST00000592132.1:n.242_243delinsGT
NM_004646.3:c.1235_1236delinsGT , LRG_693t1:c.1235_1236delinsGT NP_004637.1:p.Gly412=
NM_004646.4:c.1235_1236delinsGT MANE Select NP_004637.1:p.Gly412=
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