Canonical Allele Identifier: CA2649316830

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179564849-A-ACCAACAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564850_179564851insCAACAGATGC , CM000663.2:g.179564850_179564851insCAACAGATGC	GRCh38
NC_000001.10:g.179533985_179533986insCAACAGATGC , CM000663.1:g.179533985_179533986insCAACAGATGC	GRCh37
NC_000001.9:g.177800608_177800609insCAACAGATGC	NCBI36
NG_007535.1:g.16100_16101insCATCTGTTGG , LRG_887:g.16100_16101insCATCTGTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.275-57_275-56insCATCTGTTGG MANE Select	ENSP00000356587.4:n.275-57_275-56insCATCTGTTGG
ENST00000367615.8:c.275-57_275-56insCATCTGTTGG	ENSP00000356587.4:n.275-57_275-56insCATCTGTTGG
ENST00000367616.4:c.275-57_275-56insCATCTGTTGG	ENSP00000356588.4:n.275-57_275-56insCATCTGTTGG
NM_001297575.1:c.275-57_275-56insCATCTGTTGG	NP_001284504.1:n.275-57_275-56insCATCTGTTGG
NM_014625.3:c.275-57_275-56insCATCTGTTGG , LRG_887t1:c.275-57_275-56insCATCTGTTGG	NP_055440.1:n.275-57_275-56insCATCTGTTGG
XM_005245483.2:c.275-5089_275-5088insCATCTGTTGG	XP_005245540.1:n.275-5089_275-5088insCATCTGTTGG
XM_006711529.2:c.275-57_275-56insCATCTGTTGG	XP_006711592.1:n.275-57_275-56insCATCTGTTGG
XM_005245483.3:c.275-5089_275-5088insCATCTGTTGG	XP_005245540.1:n.275-5089_275-5088insCATCTGTTGG
XM_017002298.1:c.275-57_275-56insCATCTGTTGG	XP_016857787.1:n.275-57_275-56insCATCTGTTGG
XM_017002299.1:c.275-57_275-56insCATCTGTTGG	XP_016857788.1:n.275-57_275-56insCATCTGTTGG
NM_001297575.2:c.275-57_275-56insCATCTGTTGG	NP_001284504.1:n.275-57_275-56insCATCTGTTGG
NM_014625.4:c.275-57_275-56insCATCTGTTGG MANE Select	NP_055440.1:n.275-57_275-56insCATCTGTTGG