Canonical Allele Identifier: CA2333847196
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841753_35841760delinsAGGGCGTT , CM000681.2:g.35841753_35841760delinsAGGGCGTT GRCh38
NC_000019.9:g.36332655_36332662delinsAGGGCGTT , CM000681.1:g.36332655_36332662delinsAGGGCGTT GRCh37
NC_000019.8:g.41024495_41024502delinsAGGGCGTT NCBI36
NG_013356.2:g.32528_32535delinsAACGCCCT , LRG_693:g.32528_32535delinsAACGCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2770_2777delinsAACGCCCT MANE Select ENSP00000368190.4:p.Asn924=
ENST00000353632.6:c.2770_2777delinsAACGCCCT ENSP00000343634.5:p.Asn924=
ENST00000378910.9:c.2770_2777delinsAACGCCCT ENSP00000368190.4:p.Asn924=
NM_004646.3:c.2770_2777delinsAACGCCCT , LRG_693t1:c.2770_2777delinsAACGCCCT NP_004637.1:p.Asn924=
NM_004646.4:c.2770_2777delinsAACGCCCT MANE Select NP_004637.1:p.Asn924=
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