Canonical Allele Identifier: CA881820636

Gene: NPHS1

Linked Data

• dbSNP Id: rs1242345455
• MyVariant Identifiers: chr19:g.36340126del (hg19) ; chr19:g.35849224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849224del , CM000681.2:g.35849224del	GRCh38
NC_000019.9:g.36340126del , CM000681.1:g.36340126del	GRCh37
NC_000019.8:g.41031966del	NCBI36
NG_013356.2:g.25064del , LRG_693:g.25064del
NG_051206.1:g.2590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+12del MANE Select	ENSP00000368190.4:n.840+12del
ENST00000353632.6:c.840+12del	ENSP00000343634.5:n.840+12del
ENST00000378910.9:c.840+12del	ENSP00000368190.4:n.840+12del
NM_004646.3:c.840+12del , LRG_693t1:c.840+12del	NP_004637.1:n.840+12del
NM_004646.4:c.840+12del MANE Select	NP_004637.1:n.840+12del