Canonical Allele Identifier: CA2333850208
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848395_35848396delinsTC , CM000681.2:g.35848395_35848396delinsTC GRCh38
NC_000019.9:g.36339297_36339298delinsTC , CM000681.1:g.36339297_36339298delinsTC GRCh37
NC_000019.8:g.41031137_41031138delinsTC NCBI36
NG_013356.2:g.25892_25893delinsGA , LRG_693:g.25892_25893delinsGA
NG_051206.1:g.1761_1762delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1172_1173delinsGA MANE Select ENSP00000368190.4:p.Gly391=
ENST00000353632.6:c.1172_1173delinsGA ENSP00000343634.5:p.Gly391=
ENST00000378910.9:c.1172_1173delinsGA ENSP00000368190.4:p.Gly391=
ENST00000592132.1:n.179_180delinsGA
NM_004646.3:c.1172_1173delinsGA , LRG_693t1:c.1172_1173delinsGA NP_004637.1:p.Gly391=
NM_004646.4:c.1172_1173delinsGA MANE Select NP_004637.1:p.Gly391=
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Search 100 bp 3'