Canonical Allele Identifier: CA633060973

Gene: NPHS1

Linked Data

• dbSNP Id: rs1226480333
• gnomAD v2: 19-36340243-GATGACAGGGGGTCCTGGAGGGACT-G
• gnomAD v3: 19-35849341-GATGACAGGGGGTCCTGGAGGGACT-G
• gnomAD v4: 19-35849341-GATGACAGGGGGTCCTGGAGGGACT-G
• MyVariant Identifiers: chr19:g.36340244_36340267del (hg19) ; chr19:g.35849342_35849365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849342_35849365del , CM000681.2:g.35849342_35849365del	GRCh38
NC_000019.9:g.36340244_36340267del , CM000681.1:g.36340244_36340267del	GRCh37
NC_000019.8:g.41032084_41032107del	NCBI36
NG_013356.2:g.24923_24946del , LRG_693:g.24923_24946del
NG_051206.1:g.2708_2731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.713-2_734del
ENST00000353632.6:c.713-2_734del
ENST00000378910.9:c.713-2_734del
NM_004646.3:c.713-2_734del , LRG_693t1:c.713-2_734del
NM_004646.4:c.713-2_734del