Canonical Allele Identifier: CA891821194

Gene: NPHS2

Linked Data

• dbSNP Id: rs1202459241
• MyVariant Identifiers: chr1:g.179533439_179533444del (hg19) ; chr1:g.179564304_179564309del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564307_179564312del , CM000663.2:g.179564307_179564312del	GRCh38
NC_000001.10:g.179533442_179533447del , CM000663.1:g.179533442_179533447del	GRCh37
NC_000001.9:g.177800065_177800070del	NCBI36
NG_007535.1:g.16641_16646del , LRG_887:g.16641_16646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.378+381_378+386del MANE Select	ENSP00000356587.4:n.378+381_378+386del
ENST00000367615.8:c.378+381_378+386del	ENSP00000356587.4:n.378+381_378+386del
ENST00000367616.4:c.378+381_378+386del	ENSP00000356588.4:n.378+381_378+386del
NM_001297575.1:c.378+381_378+386del	NP_001284504.1:n.378+381_378+386del
NM_014625.3:c.378+381_378+386del , LRG_887t1:c.378+381_378+386del	NP_055440.1:n.378+381_378+386del
XM_005245483.2:c.275-4548_275-4543del	XP_005245540.1:n.275-4548_275-4543del
XM_006711529.2:c.378+381_378+386del	XP_006711592.1:n.378+381_378+386del
XM_005245483.3:c.275-4548_275-4543del	XP_005245540.1:n.275-4548_275-4543del
XM_017002298.1:c.378+381_378+386del	XP_016857787.1:n.378+381_378+386del
XM_017002299.1:c.378+381_378+386del	XP_016857788.1:n.378+381_378+386del
NM_001297575.2:c.378+381_378+386del	NP_001284504.1:n.378+381_378+386del
NM_014625.4:c.378+381_378+386del MANE Select	NP_055440.1:n.378+381_378+386del