Canonical Allele Identifier: CA2649316159

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559835-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559835_179559836insTGT , CM000663.2:g.179559835_179559836insTGT	GRCh38
NC_000001.10:g.179528970_179528971insTGT , CM000663.1:g.179528970_179528971insTGT	GRCh37
NC_000001.9:g.177795593_177795594insTGT	NCBI36
NG_007535.1:g.21114_21115insACA , LRG_887:g.21114_21115insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-75_452-74insACA MANE Select	ENSP00000356587.4:n.452-75_452-74insACA
ENST00000367615.8:c.452-75_452-74insACA	ENSP00000356587.4:n.452-75_452-74insACA
ENST00000367616.4:c.452-75_452-74insACA	ENSP00000356588.4:n.452-75_452-74insACA
NM_001297575.1:c.452-75_452-74insACA	NP_001284504.1:n.452-75_452-74insACA
NM_014625.3:c.452-75_452-74insACA , LRG_887t1:c.452-75_452-74insACA	NP_055440.1:n.452-75_452-74insACA
XM_005245483.2:c.275-75_275-74insACA	XP_005245540.1:n.275-75_275-74insACA
XM_006711529.2:c.452-75_452-74insACA	XP_006711592.1:n.452-75_452-74insACA
XM_005245483.3:c.275-75_275-74insACA	XP_005245540.1:n.275-75_275-74insACA
XM_017002298.1:c.379-75_379-74insACA	XP_016857787.1:n.379-75_379-74insACA
XM_017002299.1:c.452-75_452-74insACA	XP_016857788.1:n.452-75_452-74insACA
NM_001297575.2:c.452-75_452-74insACA	NP_001284504.1:n.452-75_452-74insACA
NM_014625.4:c.452-75_452-74insACA MANE Select	NP_055440.1:n.452-75_452-74insACA