Canonical Allele Identifier: CA2584603679

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35848474-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848478dup , CM000681.2:g.35848478dup	GRCh38
NC_000019.9:g.36339380dup , CM000681.1:g.36339380dup	GRCh37
NC_000019.8:g.41031220dup	NCBI36
NG_013356.2:g.25813dup , LRG_693:g.25813dup
NG_051206.1:g.1844dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1171-78dup MANE Select	ENSP00000368190.4:n.1171-78dup
ENST00000353632.6:c.1171-78dup	ENSP00000343634.5:n.1171-78dup
ENST00000378910.9:c.1171-78dup	ENSP00000368190.4:n.1171-78dup
ENST00000592132.1:n.178-78dup
NM_004646.3:c.1171-78dup , LRG_693t1:c.1171-78dup	NP_004637.1:n.1171-78dup
NM_004646.4:c.1171-78dup MANE Select	NP_004637.1:n.1171-78dup