Canonical Allele Identifier: CA225212

Gene: GRN

Linked Data

• ClinVar Variation Id: 98125
• ClinVar RCV Id: RCV000084427 ; RCV001241659 ; RCV002281919
• dbSNP Id: rs63751073
• gnomAD v2: 17-42426630-AC-A
• gnomAD v3: 17-44349262-AC-A
• gnomAD v4: 17-44349262-AC-A
• MyVariant Identifiers: chr17:g.42426634del (hg19) ; chr17:g.42426631del (hg19) ; chr17:g.44349266del (hg38) ; chr17:g.44349263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44349266del , CM000679.2:g.44349266del	GRCh38
NC_000017.10:g.42426634del , CM000679.1:g.42426634del	GRCh37
NC_000017.9:g.39782160del	NCBI36
NG_007886.1:g.9144del , LRG_661:g.9144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.102del MANE Select	ENSP00000053867.2:p.Gly35GlufsTer19
ENST00000639447.1:c.102del	ENSP00000492014.1:p.Gly35GlufsTer19
ENST00000053867.7:c.102del	ENSP00000053867.2:p.Gly35GlufsTer19
ENST00000585512.5:c.102del	ENSP00000467745.1:p.Gly35GlufsTer?
ENST00000586782.5:c.102del	ENSP00000468318.1:p.Gly35GlufsTer19
ENST00000587109.5:c.102del	ENSP00000466271.1:p.Gly35GlufsTer19
ENST00000587387.5:c.102del	ENSP00000467431.1:p.Gly35GlufsTer19
ENST00000587518.5:c.102del	ENSP00000465518.1:p.Gly35GlufsTer19
ENST00000587958.1:n.138del
ENST00000588143.5:c.102del	ENSP00000465375.1:p.Gly35GlufsTer19
ENST00000588170.5:n.198del
ENST00000588237.5:c.102del	ENSP00000466611.1:p.Gly35GlufsTer19
ENST00000589265.5:c.102del	ENSP00000467616.1:p.Gly35GlufsTer19
ENST00000589536.5:c.102del	ENSP00000466956.1:p.Gly35GlufsTer19
ENST00000591740.5:c.102del	ENSP00000467022.1:p.Gly35GlufsTer19
ENST00000592323.5:n.142del
ENST00000592783.5:c.102del	ENSP00000467870.1:p.Gly35GlufsTer19
ENST00000593167.5:c.102del	ENSP00000466405.1:p.Gly35GlufsTer19
NM_002087.3:c.102del	NP_002078.1:p.Gly35GlufsTer19
XM_005257253.1:c.102del	XP_005257310.1:p.Gly35GlufsTer19
XM_024450730.1:c.102del	XP_024306498.1:p.Gly35GlufsTer19
NM_002087.4:c.102del MANE Select	NP_002078.1:p.Gly35GlufsTer19