Canonical Allele Identifier: CA2649315976

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559727-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559728del , CM000663.2:g.179559728del	GRCh38
NC_000001.10:g.179528863del , CM000663.1:g.179528863del	GRCh37
NC_000001.9:g.177795486del	NCBI36
NG_007535.1:g.21222del , LRG_887:g.21222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.485del MANE Select	ENSP00000356587.4:p.Tyr162SerfsTer19
ENST00000367615.8:c.485del	ENSP00000356587.4:p.Tyr162SerfsTer19
ENST00000367616.4:c.485del	ENSP00000356588.4:p.Tyr162SerfsTer23
NM_001297575.1:c.485del	NP_001284504.1:p.Tyr162SerfsTer23
NM_014625.3:c.485del , LRG_887t1:c.485del	NP_055440.1:p.Tyr162SerfsTer19
XM_005245483.2:c.308del	XP_005245540.1:p.Tyr103SerfsTer19
XM_006711529.2:c.485del	XP_006711592.1:p.Tyr162SerfsTer19
XM_005245483.3:c.308del	XP_005245540.1:p.Tyr103SerfsTer19
XM_017002298.1:c.412del	XP_016857787.1:p.Thr138ProfsTer4
XM_017002299.1:c.485del	XP_016857788.1:p.Tyr162SerfsTer?
NM_001297575.2:c.485del	NP_001284504.1:p.Tyr162SerfsTer23
NM_014625.4:c.485del MANE Select	NP_055440.1:p.Tyr162SerfsTer19