Canonical Allele Identifier: CA2333851558
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973234211
gnomAD v4: 19-35850850-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850853del , CM000681.2:g.35850853del GRCh38
NC_000019.9:g.36341755del , CM000681.1:g.36341755del GRCh37
NC_000019.8:g.41033595del NCBI36
NG_013356.2:g.23437del , LRG_693:g.23437del
NG_051206.1:g.4219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.526+110del MANE Select ENSP00000368190.4:n.526+110del
ENST00000353632.6:c.526+110del ENSP00000343634.5:n.526+110del
ENST00000378910.9:c.526+110del ENSP00000368190.4:n.526+110del
NM_004646.3:c.526+110del , LRG_693t1:c.526+110del NP_004637.1:n.526+110del
NM_004646.4:c.526+110del MANE Select NP_004637.1:n.526+110del
Search 100 bp 5'
Search 100 bp 3'