Canonical Allele Identifier: CA2333839507
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1972804629

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826651del , CM000681.2:g.35826651del GRCh38
NC_000019.9:g.36317553del , CM000681.1:g.36317553del GRCh37
NC_000019.8:g.41009393del NCBI36
NG_013356.2:g.47637del , LRG_693:g.47637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-6del MANE Select ENSP00000368190.4:n.3595-6del
ENST00000353632.6:c.3475-6del ENSP00000343634.5:n.3475-6del
ENST00000378910.9:c.3595-6del ENSP00000368190.4:n.3595-6del
NM_004646.3:c.3595-6del , LRG_693t1:c.3595-6del NP_004637.1:n.3595-6del
NM_004646.4:c.3595-6del MANE Select NP_004637.1:n.3595-6del