Canonical Allele Identifier: CA2333850070
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848292_35848293delinsTG , CM000681.2:g.35848292_35848293delinsTG GRCh38
NC_000019.9:g.36339194_36339195delinsTG , CM000681.1:g.36339194_36339195delinsTG GRCh37
NC_000019.8:g.41031034_41031035delinsTG NCBI36
NG_013356.2:g.25995_25996delinsCA , LRG_693:g.25995_25996delinsCA
NG_051206.1:g.1658_1659delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1275_1276delinsCA MANE Select ENSP00000368190.4:p.Thr425=
ENST00000353632.6:c.1275_1276delinsCA ENSP00000343634.5:p.Thr425=
ENST00000378910.9:c.1275_1276delinsCA ENSP00000368190.4:p.Thr425=
ENST00000592132.1:n.282_283delinsCA
NM_004646.3:c.1275_1276delinsCA , LRG_693t1:c.1275_1276delinsCA NP_004637.1:p.Thr425=
NM_004646.4:c.1275_1276delinsCA MANE Select NP_004637.1:p.Thr425=
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