Canonical Allele Identifier: CA2584603339

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35845967-CTCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845968_35845972del , CM000681.2:g.35845968_35845972del	GRCh38
NC_000019.9:g.36336870_36336874del , CM000681.1:g.36336870_36336874del	GRCh37
NC_000019.8:g.41028710_41028714del	NCBI36
NG_013356.2:g.28316_28320del , LRG_693:g.28316_28320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+36_1627+40del MANE Select	ENSP00000368190.4:n.1627+36_1627+40del
ENST00000353632.6:c.1627+36_1627+40del	ENSP00000343634.5:n.1627+36_1627+40del
ENST00000378910.9:c.1627+36_1627+40del	ENSP00000368190.4:n.1627+36_1627+40del
NM_004646.3:c.1627+36_1627+40del , LRG_693t1:c.1627+36_1627+40del	NP_004637.1:n.1627+36_1627+40del
NM_004646.4:c.1627+36_1627+40del MANE Select	NP_004637.1:n.1627+36_1627+40del