Canonical Allele Identifier: CA913071833

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179544750_179544751del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575616_179575617del , CM000663.2:g.179575616_179575617del	GRCh38
NC_000001.10:g.179544751_179544752del , CM000663.1:g.179544751_179544752del	GRCh37
NC_000001.9:g.177811374_177811375del	NCBI36
NG_007535.1:g.5334_5335del , LRG_887:g.5334_5335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.249_250del MANE Select	ENSP00000356587.4:p.Leu84GlyfsTer18
ENST00000367615.8:c.249_250del	ENSP00000356587.4:p.Leu84GlyfsTer18
ENST00000367616.4:c.249_250del	ENSP00000356588.4:p.Leu84GlyfsTer18
NM_001297575.1:c.249_250del	NP_001284504.1:p.Leu84GlyfsTer18
NM_014625.3:c.249_250del , LRG_887t1:c.249_250del	NP_055440.1:p.Leu84GlyfsTer18
XM_005245483.2:c.249_250del	XP_005245540.1:p.Leu84GlyfsTer23
XM_006711529.2:c.249_250del	XP_006711592.1:p.Leu84GlyfsTer18
XM_005245483.3:c.249_250del	XP_005245540.1:p.Leu84GlyfsTer23
XM_017002298.1:c.249_250del	XP_016857787.1:p.Leu84GlyfsTer18
XM_017002299.1:c.249_250del	XP_016857788.1:p.Leu84GlyfsTer18
NM_001297575.2:c.249_250del	NP_001284504.1:p.Leu84GlyfsTer18
NM_014625.4:c.249_250del MANE Select	NP_055440.1:p.Leu84GlyfsTer18