Canonical Allele Identifier: CA1210320898

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561468_179561474delinsCCAGGAA , CM000663.2:g.179561468_179561474delinsCCAGGAA	GRCh38
NC_000001.10:g.179530603_179530609delinsCCAGGAA , CM000663.1:g.179530603_179530609delinsCCAGGAA	GRCh37
NC_000001.9:g.177797226_177797232delinsCCAGGAA	NCBI36
NG_007535.1:g.19476_19482delinsTTCCTGG , LRG_887:g.19476_19482delinsTTCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.379-113_379-107delinsTTCCTGG MANE Select	ENSP00000356587.4:n.379-113_379-107delinsTTCCTGG
ENST00000367615.8:c.379-113_379-107delinsTTCCTGG	ENSP00000356587.4:n.379-113_379-107delinsTTCCTGG
ENST00000367616.4:c.379-113_379-107delinsTTCCTGG	ENSP00000356588.4:n.379-113_379-107delinsTTCCTGG
NM_001297575.1:c.379-113_379-107delinsTTCCTGG	NP_001284504.1:n.379-113_379-107delinsTTCCTGG
NM_014625.3:c.379-113_379-107delinsTTCCTGG , LRG_887t1:c.379-113_379-107delinsTTCCTGG	NP_055440.1:n.379-113_379-107delinsTTCCTGG
XM_005245483.2:c.275-1713_275-1707delinsTTCCTGG	XP_005245540.1:n.275-1713_275-1707delinsTTCCTGG
XM_006711529.2:c.379-113_379-107delinsTTCCTGG	XP_006711592.1:n.379-113_379-107delinsTTCCTGG
XM_005245483.3:c.275-1713_275-1707delinsTTCCTGG	XP_005245540.1:n.275-1713_275-1707delinsTTCCTGG
XM_017002298.1:c.379-1713_379-1707delinsTTCCTGG	XP_016857787.1:n.379-1713_379-1707delinsTTCCTGG
XM_017002299.1:c.379-113_379-107delinsTTCCTGG	XP_016857788.1:n.379-113_379-107delinsTTCCTGG
NM_001297575.2:c.379-113_379-107delinsTTCCTGG	NP_001284504.1:n.379-113_379-107delinsTTCCTGG
NM_014625.4:c.379-113_379-107delinsTTCCTGG MANE Select	NP_055440.1:n.379-113_379-107delinsTTCCTGG