Canonical Allele Identifier: CA2333847429
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842271_35842272delinsTG , CM000681.2:g.35842271_35842272delinsTG GRCh38
NC_000019.9:g.36333173_36333174delinsTG , CM000681.1:g.36333173_36333174delinsTG GRCh37
NC_000019.8:g.41025013_41025014delinsTG NCBI36
NG_013356.2:g.32016_32017delinsCA , LRG_693:g.32016_32017delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2515_2516delinsCA MANE Select ENSP00000368190.4:p.Gln839=
ENST00000353632.6:c.2515_2516delinsCA ENSP00000343634.5:p.Gln839=
ENST00000378910.9:c.2515_2516delinsCA ENSP00000368190.4:p.Gln839=
NM_004646.3:c.2515_2516delinsCA , LRG_693t1:c.2515_2516delinsCA NP_004637.1:p.Gln839=
NM_004646.4:c.2515_2516delinsCA MANE Select NP_004637.1:p.Gln839=
Search 100 bp 5'
Search 100 bp 3'