Canonical Allele Identifier: CA2333850323

Gene: NPHS1

Linked Data

• dbSNP Id: rs1973166706

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35847841del , CM000681.2:g.35847841del	GRCh38
NC_000019.9:g.36338743del , CM000681.1:g.36338743del	GRCh37
NC_000019.8:g.41030583del	NCBI36
NG_013356.2:g.26449del , LRG_693:g.26449del
NG_051206.1:g.1207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1440+202del MANE Select	ENSP00000368190.4:n.1440+202del
ENST00000353632.6:c.1440+202del	ENSP00000343634.5:n.1440+202del
ENST00000378910.9:c.1440+202del	ENSP00000368190.4:n.1440+202del
NM_004646.3:c.1440+202del , LRG_693t1:c.1440+202del	NP_004637.1:n.1440+202del
NM_004646.4:c.1440+202del MANE Select	NP_004637.1:n.1440+202del