Canonical Allele Identifier: CA2576758888

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35845968-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845971del , CM000681.2:g.35845971del	GRCh38
NC_000019.9:g.36336873del , CM000681.1:g.36336873del	GRCh37
NC_000019.8:g.41028713del	NCBI36
NG_013356.2:g.28319del , LRG_693:g.28319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+39del MANE Select	ENSP00000368190.4:n.1627+39del
ENST00000353632.6:c.1627+39del	ENSP00000343634.5:n.1627+39del
ENST00000378910.9:c.1627+39del	ENSP00000368190.4:n.1627+39del
NM_004646.3:c.1627+39del , LRG_693t1:c.1627+39del	NP_004637.1:n.1627+39del
NM_004646.4:c.1627+39del MANE Select	NP_004637.1:n.1627+39del