Canonical Allele Identifier: CA2333847441

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842292_35842297delinsTGGGCA , CM000681.2:g.35842292_35842297delinsTGGGCA	GRCh38
NC_000019.9:g.36333194_36333199delinsTGGGCA , CM000681.1:g.36333194_36333199delinsTGGGCA	GRCh37
NC_000019.8:g.41025034_41025039delinsTGGGCA	NCBI36
NG_013356.2:g.31991_31996delinsTGCCCA , LRG_693:g.31991_31996delinsTGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2507-17_2507-12delinsTGCCCA MANE Select	ENSP00000368190.4:n.2507-17_2507-12delinsTGCCCA
ENST00000353632.6:c.2507-17_2507-12delinsTGCCCA	ENSP00000343634.5:n.2507-17_2507-12delinsTGCCCA
ENST00000378910.9:c.2507-17_2507-12delinsTGCCCA	ENSP00000368190.4:n.2507-17_2507-12delinsTGCCCA
NM_004646.3:c.2507-17_2507-12delinsTGCCCA , LRG_693t1:c.2507-17_2507-12delinsTGCCCA	NP_004637.1:n.2507-17_2507-12delinsTGCCCA
NM_004646.4:c.2507-17_2507-12delinsTGCCCA MANE Select	NP_004637.1:n.2507-17_2507-12delinsTGCCCA