Canonical Allele Identifier: CA9390377
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs760603786
ExAC: 19:36336879 GC / G
gnomAD v4: 19-35845977-GC-G
MyVariant Identifiers: chr19:g.36336880del (hg19) chr19:g.35845978del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845982del , CM000681.2:g.35845982del GRCh38
NC_000019.9:g.36336884del , CM000681.1:g.36336884del GRCh37
NC_000019.8:g.41028724del NCBI36
NG_013356.2:g.28310del , LRG_693:g.28310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1627+30del MANE Select ENSP00000368190.4:n.1627+30del
ENST00000353632.6:c.1627+30del ENSP00000343634.5:n.1627+30del
ENST00000378910.9:c.1627+30del ENSP00000368190.4:n.1627+30del
NM_004646.3:c.1627+30del , LRG_693t1:c.1627+30del NP_004637.1:n.1627+30del
NM_004646.4:c.1627+30del MANE Select NP_004637.1:n.1627+30del
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