Canonical Allele Identifier: CA2584603930

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35849404-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849406del , CM000681.2:g.35849406del	GRCh38
NC_000019.9:g.36340308del , CM000681.1:g.36340308del	GRCh37
NC_000019.8:g.41032148del	NCBI36
NG_013356.2:g.24883del , LRG_693:g.24883del
NG_051206.1:g.2772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.713-42del MANE Select	ENSP00000368190.4:n.713-42del
ENST00000353632.6:c.713-42del	ENSP00000343634.5:n.713-42del
ENST00000378910.9:c.713-42del	ENSP00000368190.4:n.713-42del
NM_004646.3:c.713-42del , LRG_693t1:c.713-42del	NP_004637.1:n.713-42del
NM_004646.4:c.713-42del MANE Select	NP_004637.1:n.713-42del