Canonical Allele Identifier: CA913071835

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179544833dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575698dup , CM000663.2:g.179575698dup	GRCh38
NC_000001.10:g.179544833dup , CM000663.1:g.179544833dup	GRCh37
NC_000001.9:g.177811456dup	NCBI36
NG_007535.1:g.5252dup , LRG_887:g.5252dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.167dup MANE Select	ENSP00000356587.4:p.Pro57AlafsTer13
ENST00000367615.8:c.167dup	ENSP00000356587.4:p.Pro57AlafsTer13
ENST00000367616.4:c.167dup	ENSP00000356588.4:p.Pro57AlafsTer13
NM_001297575.1:c.167dup	NP_001284504.1:p.Pro57AlafsTer13
NM_014625.3:c.167dup , LRG_887t1:c.167dup	NP_055440.1:p.Pro57AlafsTer13
XM_005245483.2:c.167dup	XP_005245540.1:p.Pro57AlafsTer13
XM_006711529.2:c.167dup	XP_006711592.1:p.Pro57AlafsTer13
XM_005245483.3:c.167dup	XP_005245540.1:p.Pro57AlafsTer13
XM_017002298.1:c.167dup	XP_016857787.1:p.Pro57AlafsTer13
XM_017002299.1:c.167dup	XP_016857788.1:p.Pro57AlafsTer13
NM_001297575.2:c.167dup	NP_001284504.1:p.Pro57AlafsTer13
NM_014625.4:c.167dup MANE Select	NP_055440.1:p.Pro57AlafsTer13