Canonical Allele Identifier: CA1267270

Gene: NPHS2

Linked Data

• dbSNP Id: rs776283625
• ExAC: 1:179533940 TA / T
• gnomAD v2: 1-179533940-TA-T
• gnomAD v3: 1-179564805-TA-T
• gnomAD v4: 1-179564805-TA-T
• MyVariant Identifiers: chr1:g.179533941del (hg19) ; chr1:g.179564807del (hg38) ; chr1:g.179564806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564808del , CM000663.2:g.179564808del	GRCh38
NC_000001.10:g.179533943del , CM000663.1:g.179533943del	GRCh37
NC_000001.9:g.177800566del	NCBI36
NG_007535.1:g.16144del , LRG_887:g.16144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.275-13del MANE Select	ENSP00000356587.4:n.275-13del
ENST00000367615.8:c.275-13del	ENSP00000356587.4:n.275-13del
ENST00000367616.4:c.275-13del	ENSP00000356588.4:n.275-13del
NM_001297575.1:c.275-13del	NP_001284504.1:n.275-13del
NM_014625.3:c.275-13del , LRG_887t1:c.275-13del	NP_055440.1:n.275-13del
XM_005245483.2:c.275-5045del	XP_005245540.1:n.275-5045del
XM_006711529.2:c.275-13del	XP_006711592.1:n.275-13del
XM_005245483.3:c.275-5045del	XP_005245540.1:n.275-5045del
XM_017002298.1:c.275-13del	XP_016857787.1:n.275-13del
XM_017002299.1:c.275-13del	XP_016857788.1:n.275-13del
NM_001297575.2:c.275-13del	NP_001284504.1:n.275-13del
NM_014625.4:c.275-13del MANE Select	NP_055440.1:n.275-13del