Canonical Allele Identifier: CA891821571

Gene: NPHS2

Linked Data

• dbSNP Id: rs1173183268
• gnomAD v3: 1-179564769-G-GCCC
• gnomAD v4: 1-179564769-G-GCCC
• MyVariant Identifiers: chr1:g.179533904_179533905insCCC (hg19) ; chr1:g.179564769_179564770insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564771_179564773dup , CM000663.2:g.179564771_179564773dup	GRCh38
NC_000001.10:g.179533906_179533908dup , CM000663.1:g.179533906_179533908dup	GRCh37
NC_000001.9:g.177800529_177800531dup	NCBI36
NG_007535.1:g.16178_16180dup , LRG_887:g.16178_16180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.296_298dup MANE Select	ENSP00000356587.4:p.Gly99_Ala100insGly
ENST00000367615.8:c.296_298dup	ENSP00000356587.4:p.Gly99_Ala100insGly
ENST00000367616.4:c.296_298dup	ENSP00000356588.4:p.Gly99_Ala100insGly
NM_001297575.1:c.296_298dup	NP_001284504.1:p.Gly99_Ala100insGly
NM_014625.3:c.296_298dup , LRG_887t1:c.296_298dup	NP_055440.1:p.Gly99_Ala100insGly
XM_005245483.2:c.275-5011_275-5009dup	XP_005245540.1:n.275-5011_275-5009dup
XM_006711529.2:c.296_298dup	XP_006711592.1:p.Gly99_Ala100insGly
XM_005245483.3:c.275-5011_275-5009dup	XP_005245540.1:n.275-5011_275-5009dup
XM_017002298.1:c.296_298dup	XP_016857787.1:p.Gly99_Ala100insGly
XM_017002299.1:c.296_298dup	XP_016857788.1:p.Gly99_Ala100insGly
NM_001297575.2:c.296_298dup	NP_001284504.1:p.Gly99_Ala100insGly
NM_014625.4:c.296_298dup MANE Select	NP_055440.1:p.Gly99_Ala100insGly