Canonical Allele Identifier: CA2649316816

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179564813-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564815_179564816del , CM000663.2:g.179564815_179564816del	GRCh38
NC_000001.10:g.179533950_179533951del , CM000663.1:g.179533950_179533951del	GRCh37
NC_000001.9:g.177800573_177800574del	NCBI36
NG_007535.1:g.16135_16136del , LRG_887:g.16135_16136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.275-22_275-21del MANE Select	ENSP00000356587.4:n.275-22_275-21del
ENST00000367615.8:c.275-22_275-21del	ENSP00000356587.4:n.275-22_275-21del
ENST00000367616.4:c.275-22_275-21del	ENSP00000356588.4:n.275-22_275-21del
NM_001297575.1:c.275-22_275-21del	NP_001284504.1:n.275-22_275-21del
NM_014625.3:c.275-22_275-21del , LRG_887t1:c.275-22_275-21del	NP_055440.1:n.275-22_275-21del
XM_005245483.2:c.275-5054_275-5053del	XP_005245540.1:n.275-5054_275-5053del
XM_006711529.2:c.275-22_275-21del	XP_006711592.1:n.275-22_275-21del
XM_005245483.3:c.275-5054_275-5053del	XP_005245540.1:n.275-5054_275-5053del
XM_017002298.1:c.275-22_275-21del	XP_016857787.1:n.275-22_275-21del
XM_017002299.1:c.275-22_275-21del	XP_016857788.1:n.275-22_275-21del
NM_001297575.2:c.275-22_275-21del	NP_001284504.1:n.275-22_275-21del
NM_014625.4:c.275-22_275-21del MANE Select	NP_055440.1:n.275-22_275-21del