Canonical Allele Identifier: CA1267207

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 741300
• ClinVar RCV Id: RCV000917443 ; RCV001276838
• dbSNP Id: rs755282277
• ExAC: 1:179528904 AGAG / A
• gnomAD v2: 1-179528904-AGAG-A
• gnomAD v3: 1-179559769-AGAG-A
• gnomAD v4: 1-179559769-AGAG-A
• MyVariant Identifiers: chr1:g.179528905_179528907del (hg19) ; chr1:g.179559771_179559773del (hg38) ; chr1:g.179559770_179559772del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559778_179559780del , CM000663.2:g.179559778_179559780del	GRCh38
NC_000001.10:g.179528913_179528915del , CM000663.1:g.179528913_179528915del	GRCh37
NC_000001.9:g.177795536_177795538del	NCBI36
NG_007535.1:g.21178_21180del , LRG_887:g.21178_21180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-11_452-9del MANE Select	ENSP00000356587.4:n.452-11_452-9del
ENST00000367615.8:c.452-11_452-9del	ENSP00000356587.4:n.452-11_452-9del
ENST00000367616.4:c.452-11_452-9del	ENSP00000356588.4:n.452-11_452-9del
NM_001297575.1:c.452-11_452-9del	NP_001284504.1:n.452-11_452-9del
NM_014625.3:c.452-11_452-9del , LRG_887t1:c.452-11_452-9del	NP_055440.1:n.452-11_452-9del
XM_005245483.2:c.275-11_275-9del	XP_005245540.1:n.275-11_275-9del
XM_006711529.2:c.452-11_452-9del	XP_006711592.1:n.452-11_452-9del
XM_005245483.3:c.275-11_275-9del	XP_005245540.1:n.275-11_275-9del
XM_017002298.1:c.379-11_379-9del	XP_016857787.1:n.379-11_379-9del
XM_017002299.1:c.452-11_452-9del	XP_016857788.1:n.452-11_452-9del
NM_001297575.2:c.452-11_452-9del	NP_001284504.1:n.452-11_452-9del
NM_014625.4:c.452-11_452-9del MANE Select	NP_055440.1:n.452-11_452-9del