Canonical Allele Identifier: CA2584604394
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35851000-CAGACACACA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35851001_35851009del , CM000681.2:g.35851001_35851009del GRCh38
NC_000019.9:g.36341903_36341911del , CM000681.1:g.36341903_36341911del GRCh37
NC_000019.8:g.41033743_41033751del NCBI36
NG_013356.2:g.23279_23287del , LRG_693:g.23279_23287del
NG_051206.1:g.4367_4375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.478_486del MANE Select ENSP00000368190.4:p.Cys160_Ser162del
ENST00000353632.6:c.478_486del ENSP00000343634.5:p.Cys160_Ser162del
ENST00000378910.9:c.478_486del ENSP00000368190.4:p.Cys160_Ser162del
NM_004646.3:c.478_486del , LRG_693t1:c.478_486del NP_004637.1:p.Cys160_Ser162del
NM_004646.4:c.478_486del MANE Select NP_004637.1:p.Cys160_Ser162del
Search 100 bp 5'
Search 100 bp 3'