Canonical Allele Identifier: CA2746821879

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559891_179559892insACCAAACACACCCAACA , CM000663.2:g.179559891_179559892insACCAAACACACCCAACA	GRCh38
NC_000001.10:g.179529026_179529027insACCAAACACACCCAACA , CM000663.1:g.179529026_179529027insACCAAACACACCCAACA	GRCh37
NC_000001.9:g.177795649_177795650insACCAAACACACCCAACA	NCBI36
NG_007535.1:g.21058_21059insTGTTGGGTGTGTTTGGT , LRG_887:g.21058_21059insTGTTGGGTGTGTTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-131_452-130insTGTTGGGTGTGTTTGGT MANE Select	ENSP00000356587.4:n.452-131_452-130insTGTTGGGTGTGTTTGGT
ENST00000367615.8:c.452-131_452-130insTGTTGGGTGTGTTTGGT	ENSP00000356587.4:n.452-131_452-130insTGTTGGGTGTGTTTGGT
ENST00000367616.4:c.452-131_452-130insTGTTGGGTGTGTTTGGT	ENSP00000356588.4:n.452-131_452-130insTGTTGGGTGTGTTTGGT
NM_001297575.1:c.452-131_452-130insTGTTGGGTGTGTTTGGT	NP_001284504.1:n.452-131_452-130insTGTTGGGTGTGTTTGGT
NM_014625.3:c.452-131_452-130insTGTTGGGTGTGTTTGGT , LRG_887t1:c.452-131_452-130insTGTTGGGTGTGTTTGGT	NP_055440.1:n.452-131_452-130insTGTTGGGTGTGTTTGGT
XM_005245483.2:c.275-131_275-130insTGTTGGGTGTGTTTGGT	XP_005245540.1:n.275-131_275-130insTGTTGGGTGTGTTTGGT
XM_006711529.2:c.452-131_452-130insTGTTGGGTGTGTTTGGT	XP_006711592.1:n.452-131_452-130insTGTTGGGTGTGTTTGGT
XM_005245483.3:c.275-131_275-130insTGTTGGGTGTGTTTGGT	XP_005245540.1:n.275-131_275-130insTGTTGGGTGTGTTTGGT
XM_017002298.1:c.379-131_379-130insTGTTGGGTGTGTTTGGT	XP_016857787.1:n.379-131_379-130insTGTTGGGTGTGTTTGGT
XM_017002299.1:c.452-131_452-130insTGTTGGGTGTGTTTGGT	XP_016857788.1:n.452-131_452-130insTGTTGGGTGTGTTTGGT
NM_001297575.2:c.452-131_452-130insTGTTGGGTGTGTTTGGT	NP_001284504.1:n.452-131_452-130insTGTTGGGTGTGTTTGGT
NM_014625.4:c.452-131_452-130insTGTTGGGTGTGTTTGGT MANE Select	NP_055440.1:n.452-131_452-130insTGTTGGGTGTGTTTGGT