Canonical Allele Identifier: CA2584602298
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842321_35842325del , CM000681.2:g.35842321_35842325del GRCh38
NC_000019.9:g.36333223_36333227del , CM000681.1:g.36333223_36333227del GRCh37
NC_000019.8:g.41025063_41025067del NCBI36
NG_013356.2:g.31965_31969del , LRG_693:g.31965_31969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2507-43_2507-39del MANE Select ENSP00000368190.4:n.2507-43_2507-39del
ENST00000353632.6:c.2507-43_2507-39del ENSP00000343634.5:n.2507-43_2507-39del
ENST00000378910.9:c.2507-43_2507-39del ENSP00000368190.4:n.2507-43_2507-39del
NM_004646.3:c.2507-43_2507-39del , LRG_693t1:c.2507-43_2507-39del NP_004637.1:n.2507-43_2507-39del
NM_004646.4:c.2507-43_2507-39del MANE Select NP_004637.1:n.2507-43_2507-39del