Canonical Allele Identifier: CA2584603866
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35848921-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848922del , CM000681.2:g.35848922del GRCh38
NC_000019.9:g.36339824del , CM000681.1:g.36339824del GRCh37
NC_000019.8:g.41031664del NCBI36
NG_013356.2:g.25366del , LRG_693:g.25366del
NG_051206.1:g.2288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1012+54del MANE Select ENSP00000368190.4:n.1012+54del
ENST00000353632.6:c.1012+54del ENSP00000343634.5:n.1012+54del
ENST00000378910.9:c.1012+54del ENSP00000368190.4:n.1012+54del
ENST00000592132.1:n.19+54del
NM_004646.3:c.1012+54del , LRG_693t1:c.1012+54del NP_004637.1:n.1012+54del
NM_004646.4:c.1012+54del MANE Select NP_004637.1:n.1012+54del
Search 100 bp 5'
Search 100 bp 3'