Canonical Allele Identifier: CA2333839504

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826650_35826651delinsCA , CM000681.2:g.35826650_35826651delinsCA	GRCh38
NC_000019.9:g.36317552_36317553delinsCA , CM000681.1:g.36317552_36317553delinsCA	GRCh37
NC_000019.8:g.41009392_41009393delinsCA	NCBI36
NG_013356.2:g.47637_47638delinsTG , LRG_693:g.47637_47638delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3595-6_3595-5delinsTG MANE Select	ENSP00000368190.4:n.3595-6_3595-5delinsTG
ENST00000353632.6:c.3475-6_3475-5delinsTG	ENSP00000343634.5:n.3475-6_3475-5delinsTG
ENST00000378910.9:c.3595-6_3595-5delinsTG	ENSP00000368190.4:n.3595-6_3595-5delinsTG
NM_004646.3:c.3595-6_3595-5delinsTG , LRG_693t1:c.3595-6_3595-5delinsTG	NP_004637.1:n.3595-6_3595-5delinsTG
NM_004646.4:c.3595-6_3595-5delinsTG MANE Select	NP_004637.1:n.3595-6_3595-5delinsTG