Canonical Allele Identifier: CA2697556481

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 2744296
• ClinVar RCV Id: RCV003560782

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849243_35849249dup , CM000681.2:g.35849243_35849249dup	GRCh38
NC_000019.9:g.36340145_36340151dup , CM000681.1:g.36340145_36340151dup	GRCh37
NC_000019.8:g.41031985_41031991dup	NCBI36
NG_013356.2:g.25039_25045dup , LRG_693:g.25039_25045dup
NG_051206.1:g.2609_2615dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.827_833dup MANE Select	ENSP00000368190.4:p.Trp278CysfsTer?
ENST00000353632.6:c.827_833dup	ENSP00000343634.5:p.Trp278CysfsTer?
ENST00000378910.9:c.827_833dup	ENSP00000368190.4:p.Trp278CysfsTer?
NM_004646.3:c.827_833dup , LRG_693t1:c.827_833dup	NP_004637.1:p.Trp278CysfsTer?
NM_004646.4:c.827_833dup MANE Select	NP_004637.1:p.Trp278CysfsTer?