Canonical Allele Identifier: CA2576758886

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35845963-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845964dup , CM000681.2:g.35845964dup	GRCh38
NC_000019.9:g.36336866dup , CM000681.1:g.36336866dup	GRCh37
NC_000019.8:g.41028706dup	NCBI36
NG_013356.2:g.28324dup , LRG_693:g.28324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+44dup MANE Select	ENSP00000368190.4:n.1627+44dup
ENST00000353632.6:c.1627+44dup	ENSP00000343634.5:n.1627+44dup
ENST00000378910.9:c.1627+44dup	ENSP00000368190.4:n.1627+44dup
NM_004646.3:c.1627+44dup , LRG_693t1:c.1627+44dup	NP_004637.1:n.1627+44dup
NM_004646.4:c.1627+44dup MANE Select	NP_004637.1:n.1627+44dup