Canonical Allele Identifier: CA891819456

Gene: NPHS2

Linked Data

• dbSNP Id: rs1429305035
• gnomAD v3: 1-179561468-CCAGGAA-C
• gnomAD v4: 1-179561468-CCAGGAA-C
• MyVariant Identifiers: chr1:g.179530604_179530609del (hg19) ; chr1:g.179561469_179561474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561469_179561474del , CM000663.2:g.179561469_179561474del	GRCh38
NC_000001.10:g.179530604_179530609del , CM000663.1:g.179530604_179530609del	GRCh37
NC_000001.9:g.177797227_177797232del	NCBI36
NG_007535.1:g.19476_19481del , LRG_887:g.19476_19481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.379-113_379-108del MANE Select	ENSP00000356587.4:n.379-113_379-108del
ENST00000367615.8:c.379-113_379-108del	ENSP00000356587.4:n.379-113_379-108del
ENST00000367616.4:c.379-113_379-108del	ENSP00000356588.4:n.379-113_379-108del
NM_001297575.1:c.379-113_379-108del	NP_001284504.1:n.379-113_379-108del
NM_014625.3:c.379-113_379-108del , LRG_887t1:c.379-113_379-108del	NP_055440.1:n.379-113_379-108del
XM_005245483.2:c.275-1713_275-1708del	XP_005245540.1:n.275-1713_275-1708del
XM_006711529.2:c.379-113_379-108del	XP_006711592.1:n.379-113_379-108del
XM_005245483.3:c.275-1713_275-1708del	XP_005245540.1:n.275-1713_275-1708del
XM_017002298.1:c.379-1713_379-1708del	XP_016857787.1:n.379-1713_379-1708del
XM_017002299.1:c.379-113_379-108del	XP_016857788.1:n.379-113_379-108del
NM_001297575.2:c.379-113_379-108del	NP_001284504.1:n.379-113_379-108del
NM_014625.4:c.379-113_379-108del MANE Select	NP_055440.1:n.379-113_379-108del