Canonical Allele Identifier: CA2584602153
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841926_35841927insTCCAAG , CM000681.2:g.35841926_35841927insTCCAAG GRCh38
NC_000019.9:g.36332828_36332829insTCCAAG , CM000681.1:g.36332828_36332829insTCCAAG GRCh37
NC_000019.8:g.41024668_41024669insTCCAAG NCBI36
NG_013356.2:g.32361_32362insCTTGGA , LRG_693:g.32361_32362insCTTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2664-61_2664-60insCTTGGA MANE Select ENSP00000368190.4:n.2664-61_2664-60insCTTGGA
ENST00000353632.6:c.2664-61_2664-60insCTTGGA ENSP00000343634.5:n.2664-61_2664-60insCTTGGA
ENST00000378910.9:c.2664-61_2664-60insCTTGGA ENSP00000368190.4:n.2664-61_2664-60insCTTGGA
NM_004646.3:c.2664-61_2664-60insCTTGGA , LRG_693t1:c.2664-61_2664-60insCTTGGA NP_004637.1:n.2664-61_2664-60insCTTGGA
NM_004646.4:c.2664-61_2664-60insCTTGGA MANE Select NP_004637.1:n.2664-61_2664-60insCTTGGA