Canonical Allele Identifier: CA633061394

Gene: NPHS1

Linked Data

• dbSNP Id: rs1260302003
• gnomAD v2: 19-36339850-CAG-C
• gnomAD v3: 19-35848948-CAG-C
• gnomAD v4: 19-35848948-CAG-C
• MyVariant Identifiers: chr19:g.36339851_36339852del (hg19) ; chr19:g.35848949_35848950del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848949_35848950del , CM000681.2:g.35848949_35848950del	GRCh38
NC_000019.9:g.36339851_36339852del , CM000681.1:g.36339851_36339852del	GRCh37
NC_000019.8:g.41031691_41031692del	NCBI36
NG_013356.2:g.25338_25339del , LRG_693:g.25338_25339del
NG_051206.1:g.2315_2316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1012+26_1012+27del MANE Select	ENSP00000368190.4:n.1012+26_1012+27del
ENST00000353632.6:c.1012+26_1012+27del	ENSP00000343634.5:n.1012+26_1012+27del
ENST00000378910.9:c.1012+26_1012+27del	ENSP00000368190.4:n.1012+26_1012+27del
ENST00000592132.1:n.19+26_19+27del
NM_004646.3:c.1012+26_1012+27del , LRG_693t1:c.1012+26_1012+27del	NP_004637.1:n.1012+26_1012+27del
NM_004646.4:c.1012+26_1012+27del MANE Select	NP_004637.1:n.1012+26_1012+27del