Canonical Allele Identifier: CA2333849209

Gene: NPHS1

Linked Data

• dbSNP Id: rs1973134033
• gnomAD v4: 19-35845967-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845967_35845968insA , CM000681.2:g.35845967_35845968insA	GRCh38
NC_000019.9:g.36336869_36336870insA , CM000681.1:g.36336869_36336870insA	GRCh37
NC_000019.8:g.41028709_41028710insA	NCBI36
NG_013356.2:g.28320_28321insT , LRG_693:g.28320_28321insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+40_1627+41insT MANE Select	ENSP00000368190.4:n.1627+40_1627+41insT
ENST00000353632.6:c.1627+40_1627+41insT	ENSP00000343634.5:n.1627+40_1627+41insT
ENST00000378910.9:c.1627+40_1627+41insT	ENSP00000368190.4:n.1627+40_1627+41insT
NM_004646.3:c.1627+40_1627+41insT , LRG_693t1:c.1627+40_1627+41insT	NP_004637.1:n.1627+40_1627+41insT
NM_004646.4:c.1627+40_1627+41insT MANE Select	NP_004637.1:n.1627+40_1627+41insT