Canonical Allele Identifier: CA2584602158

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35841929-TCTATGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841930_35841936del , CM000681.2:g.35841930_35841936del	GRCh38
NC_000019.9:g.36332832_36332838del , CM000681.1:g.36332832_36332838del	GRCh37
NC_000019.8:g.41024672_41024678del	NCBI36
NG_013356.2:g.32352_32358del , LRG_693:g.32352_32358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2664-70_2664-64del MANE Select	ENSP00000368190.4:n.2664-70_2664-64del
ENST00000353632.6:c.2664-70_2664-64del	ENSP00000343634.5:n.2664-70_2664-64del
ENST00000378910.9:c.2664-70_2664-64del	ENSP00000368190.4:n.2664-70_2664-64del
NM_004646.3:c.2664-70_2664-64del , LRG_693t1:c.2664-70_2664-64del	NP_004637.1:n.2664-70_2664-64del
NM_004646.4:c.2664-70_2664-64del MANE Select	NP_004637.1:n.2664-70_2664-64del