Canonical Allele Identifier: CA2584603367

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35845985-GCCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845986_35845990del , CM000681.2:g.35845986_35845990del	GRCh38
NC_000019.9:g.36336888_36336892del , CM000681.1:g.36336888_36336892del	GRCh37
NC_000019.8:g.41028728_41028732del	NCBI36
NG_013356.2:g.28298_28302del , LRG_693:g.28298_28302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+18_1627+22del MANE Select	ENSP00000368190.4:n.1627+18_1627+22del
ENST00000353632.6:c.1627+18_1627+22del	ENSP00000343634.5:n.1627+18_1627+22del
ENST00000378910.9:c.1627+18_1627+22del	ENSP00000368190.4:n.1627+18_1627+22del
NM_004646.3:c.1627+18_1627+22del , LRG_693t1:c.1627+18_1627+22del	NP_004637.1:n.1627+18_1627+22del
NM_004646.4:c.1627+18_1627+22del MANE Select	NP_004637.1:n.1627+18_1627+22del