Canonical Allele Identifier: CA2333850511
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848673_35848676delinsCCAG , CM000681.2:g.35848673_35848676delinsCCAG GRCh38
NC_000019.9:g.36339575_36339578delinsCCAG , CM000681.1:g.36339575_36339578delinsCCAG GRCh37
NC_000019.8:g.41031415_41031418delinsCCAG NCBI36
NG_013356.2:g.25612_25615delinsCTGG , LRG_693:g.25612_25615delinsCTGG
NG_051206.1:g.2039_2042delinsCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1131_1134delinsCTGG MANE Select ENSP00000368190.4:p.Gly377=
ENST00000353632.6:c.1131_1134delinsCTGG ENSP00000343634.5:p.Gly377=
ENST00000378910.9:c.1131_1134delinsCTGG ENSP00000368190.4:p.Gly377=
ENST00000592132.1:n.138_141delinsCTGG
NM_004646.3:c.1131_1134delinsCTGG , LRG_693t1:c.1131_1134delinsCTGG NP_004637.1:p.Gly377=
NM_004646.4:c.1131_1134delinsCTGG MANE Select NP_004637.1:p.Gly377=
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