Canonical Allele Identifier: CA2695228648
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850973del , CM000681.2:g.35850973del GRCh38
NC_000019.9:g.36341875del , CM000681.1:g.36341875del GRCh37
NC_000019.8:g.41033715del NCBI36
NG_013356.2:g.23315del , LRG_693:g.23315del
NG_051206.1:g.4339del

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.514del MANE Select ENSP00000368190.4:p.Thr172ProfsTer4
ENST00000353632.6:c.514del ENSP00000343634.5:p.Thr172ProfsTer4
ENST00000378910.9:c.514del ENSP00000368190.4:p.Thr172ProfsTer4
NM_004646.3:c.514del , LRG_693t1:c.514del NP_004637.1:p.Thr172ProfsTer4
NM_004646.4:c.514del MANE Select NP_004637.1:p.Thr172ProfsTer4
Search 100 bp 5'
Search 100 bp 3'