Canonical Allele Identifier: CA2584603564
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35848393-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848394_35848395del , CM000681.2:g.35848394_35848395del GRCh38
NC_000019.9:g.36339296_36339297del , CM000681.1:g.36339296_36339297del GRCh37
NC_000019.8:g.41031136_41031137del NCBI36
NG_013356.2:g.25893_25894del , LRG_693:g.25893_25894del
NG_051206.1:g.1760_1761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1173_1174del MANE Select ENSP00000368190.4:p.Leu392AlafsTer26
ENST00000353632.6:c.1173_1174del ENSP00000343634.5:p.Leu392AlafsTer26
ENST00000378910.9:c.1173_1174del ENSP00000368190.4:p.Leu392AlafsTer26
ENST00000592132.1:n.180_181del
NM_004646.3:c.1173_1174del , LRG_693t1:c.1173_1174del NP_004637.1:p.Leu392AlafsTer26
NM_004646.4:c.1173_1174del MANE Select NP_004637.1:p.Leu392AlafsTer26
Search 100 bp 5'
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