Canonical Allele Identifier: CA2584602143
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841919_35841920insATAGATGA , CM000681.2:g.35841919_35841920insATAGATGA GRCh38
NC_000019.9:g.36332821_36332822insATAGATGA , CM000681.1:g.36332821_36332822insATAGATGA GRCh37
NC_000019.8:g.41024661_41024662insATAGATGA NCBI36
NG_013356.2:g.32368_32369insTCATCTAT , LRG_693:g.32368_32369insTCATCTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2664-54_2664-53insTCATCTAT MANE Select ENSP00000368190.4:n.2664-54_2664-53insTCATCTAT
ENST00000353632.6:c.2664-54_2664-53insTCATCTAT ENSP00000343634.5:n.2664-54_2664-53insTCATCTAT
ENST00000378910.9:c.2664-54_2664-53insTCATCTAT ENSP00000368190.4:n.2664-54_2664-53insTCATCTAT
NM_004646.3:c.2664-54_2664-53insTCATCTAT , LRG_693t1:c.2664-54_2664-53insTCATCTAT NP_004637.1:n.2664-54_2664-53insTCATCTAT
NM_004646.4:c.2664-54_2664-53insTCATCTAT MANE Select NP_004637.1:n.2664-54_2664-53insTCATCTAT