Canonical Allele Identifier: CA2586967766

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575600_179575601del , CM000663.2:g.179575600_179575601del	GRCh38
NC_000001.10:g.179544735_179544736del , CM000663.1:g.179544735_179544736del	GRCh37
NC_000001.9:g.177811358_177811359del	NCBI36
NG_007535.1:g.5349_5350del , LRG_887:g.5349_5350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.264_265del MANE Select	ENSP00000356587.4:p.Pro89ArgfsTer13
ENST00000367615.8:c.264_265del	ENSP00000356587.4:p.Pro89ArgfsTer13
ENST00000367616.4:c.264_265del	ENSP00000356588.4:p.Pro89ArgfsTer13
NM_001297575.1:c.264_265del	NP_001284504.1:p.Pro89ArgfsTer13
NM_014625.3:c.264_265del , LRG_887t1:c.264_265del	NP_055440.1:p.Pro89ArgfsTer13
XM_005245483.2:c.264_265del	XP_005245540.1:p.Pro89ArgfsTer18
XM_006711529.2:c.264_265del	XP_006711592.1:p.Pro89ArgfsTer13
XM_005245483.3:c.264_265del	XP_005245540.1:p.Pro89ArgfsTer18
XM_017002298.1:c.264_265del	XP_016857787.1:p.Pro89ArgfsTer13
XM_017002299.1:c.264_265del	XP_016857788.1:p.Pro89ArgfsTer13
NM_001297575.2:c.264_265del	NP_001284504.1:p.Pro89ArgfsTer13
NM_014625.4:c.264_265del MANE Select	NP_055440.1:p.Pro89ArgfsTer13