Canonical Allele Identifier: CA2832573075

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845982dup , CM000681.2:g.35845982dup	GRCh38
NC_000019.9:g.36336884dup , CM000681.1:g.36336884dup	GRCh37
NC_000019.8:g.41028724dup	NCBI36
NG_013356.2:g.28310dup , LRG_693:g.28310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+30dup MANE Select	ENSP00000368190.4:n.1627+30dup
ENST00000353632.6:c.1627+30dup	ENSP00000343634.5:n.1627+30dup
ENST00000378910.9:c.1627+30dup	ENSP00000368190.4:n.1627+30dup
NM_004646.3:c.1627+30dup , LRG_693t1:c.1627+30dup	NP_004637.1:n.1627+30dup
NM_004646.4:c.1627+30dup MANE Select	NP_004637.1:n.1627+30dup