Canonical Allele Identifier: CA527199734

Gene: NPHS2

Linked Data

• dbSNP Id: rs1458945678
• gnomAD v2: 1-179533551-AAT-A
• gnomAD v3: 1-179564416-AAT-A
• gnomAD v4: 1-179564416-AAT-A
• MyVariant Identifiers: chr1:g.179533552_179533553del (hg19) ; chr1:g.179564417_179564418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564420_179564421del , CM000663.2:g.179564420_179564421del	GRCh38
NC_000001.10:g.179533555_179533556del , CM000663.1:g.179533555_179533556del	GRCh37
NC_000001.9:g.177800178_177800179del	NCBI36
NG_007535.1:g.16532_16533del , LRG_887:g.16532_16533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.378+272_378+273del MANE Select	ENSP00000356587.4:n.378+272_378+273del
ENST00000367615.8:c.378+272_378+273del	ENSP00000356587.4:n.378+272_378+273del
ENST00000367616.4:c.378+272_378+273del	ENSP00000356588.4:n.378+272_378+273del
NM_001297575.1:c.378+272_378+273del	NP_001284504.1:n.378+272_378+273del
NM_014625.3:c.378+272_378+273del , LRG_887t1:c.378+272_378+273del	NP_055440.1:n.378+272_378+273del
XM_005245483.2:c.275-4657_275-4656del	XP_005245540.1:n.275-4657_275-4656del
XM_006711529.2:c.378+272_378+273del	XP_006711592.1:n.378+272_378+273del
XM_005245483.3:c.275-4657_275-4656del	XP_005245540.1:n.275-4657_275-4656del
XM_017002298.1:c.378+272_378+273del	XP_016857787.1:n.378+272_378+273del
XM_017002299.1:c.378+272_378+273del	XP_016857788.1:n.378+272_378+273del
NM_001297575.2:c.378+272_378+273del	NP_001284504.1:n.378+272_378+273del
NM_014625.4:c.378+272_378+273del MANE Select	NP_055440.1:n.378+272_378+273del