Canonical Allele Identifier: CA2333850253

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848439_35848440delinsCT , CM000681.2:g.35848439_35848440delinsCT	GRCh38
NC_000019.9:g.36339341_36339342delinsCT , CM000681.1:g.36339341_36339342delinsCT	GRCh37
NC_000019.8:g.41031181_41031182delinsCT	NCBI36
NG_013356.2:g.25848_25849delinsAG , LRG_693:g.25848_25849delinsAG
NG_051206.1:g.1805_1806delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1171-43_1171-42delinsAG MANE Select	ENSP00000368190.4:n.1171-43_1171-42delinsAG
ENST00000353632.6:c.1171-43_1171-42delinsAG	ENSP00000343634.5:n.1171-43_1171-42delinsAG
ENST00000378910.9:c.1171-43_1171-42delinsAG	ENSP00000368190.4:n.1171-43_1171-42delinsAG
ENST00000592132.1:n.178-43_178-42delinsAG
NM_004646.3:c.1171-43_1171-42delinsAG , LRG_693t1:c.1171-43_1171-42delinsAG	NP_004637.1:n.1171-43_1171-42delinsAG
NM_004646.4:c.1171-43_1171-42delinsAG MANE Select	NP_004637.1:n.1171-43_1171-42delinsAG