Canonical Allele Identifier: CA33697097

Gene: NPHS2

Linked Data

• dbSNP Id: rs756868169
• gnomAD v4: 1-179556918-TG-T
• MyVariant Identifiers: chr1:g.179526054del (hg19) ; chr1:g.179556919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556920del , CM000663.2:g.179556920del	GRCh38
NC_000001.10:g.179526055del , CM000663.1:g.179526055del	GRCh37
NC_000001.9:g.177792678del	NCBI36
NG_007535.1:g.24031del , LRG_887:g.24031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+108del MANE Select	ENSP00000356587.4:n.738+108del
ENST00000367615.8:c.738+108del	ENSP00000356587.4:n.738+108del
ENST00000367616.4:c.535-2388del	ENSP00000356588.4:n.535-2388del
NM_001297575.1:c.535-2388del	NP_001284504.1:n.535-2388del
NM_014625.3:c.738+108del , LRG_887t1:c.738+108del	NP_055440.1:n.738+108del
XM_005245483.2:c.561+108del	XP_005245540.1:n.561+108del
XM_006711529.2:c.738+108del	XP_006711592.1:n.738+108del
XM_005245483.3:c.561+108del	XP_005245540.1:n.561+108del
XM_017002298.1:c.461+2760del	XP_016857787.1:n.461+2760del
XM_017002299.1:c.534+2760del	XP_016857788.1:n.534+2760del
NM_001297575.2:c.535-2388del	NP_001284504.1:n.535-2388del
NM_014625.4:c.738+108del MANE Select	NP_055440.1:n.738+108del