Canonical Allele Identifier: CA2695199920

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2677352
• ClinVar RCV Id: RCV003471597

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559756_179559760del , CM000663.2:g.179559756_179559760del	GRCh38
NC_000001.10:g.179528891_179528895del , CM000663.1:g.179528891_179528895del	GRCh37
NC_000001.9:g.177795514_177795518del	NCBI36
NG_007535.1:g.21196_21200del , LRG_887:g.21196_21200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.459_463del MANE Select	ENSP00000356587.4:p.Phe155AlafsTer10
ENST00000367615.8:c.459_463del	ENSP00000356587.4:p.Phe155AlafsTer10
ENST00000367616.4:c.459_463del	ENSP00000356588.4:p.Phe155AlafsTer10
NM_001297575.1:c.459_463del	NP_001284504.1:p.Phe155AlafsTer10
NM_014625.3:c.459_463del , LRG_887t1:c.459_463del	NP_055440.1:p.Phe155AlafsTer10
XM_005245483.2:c.282_286del	XP_005245540.1:p.Phe96AlafsTer10
XM_006711529.2:c.459_463del	XP_006711592.1:p.Phe155AlafsTer10
XM_005245483.3:c.282_286del	XP_005245540.1:p.Phe96AlafsTer10
XM_017002298.1:c.386_390del	XP_016857787.1:p.Ser129PhefsTer25
XM_017002299.1:c.459_463del	XP_016857788.1:p.Phe155AlafsTer10
NM_001297575.2:c.459_463del	NP_001284504.1:p.Phe155AlafsTer10
NM_014625.4:c.459_463del MANE Select	NP_055440.1:p.Phe155AlafsTer10