Canonical Allele Identifier: CA225345

Gene: GRN

Linked Data

• ClinVar Variation Id: 98183
• ClinVar RCV Id: RCV000084486
• dbSNP Id: rs63749951

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352230dup , CM000679.2:g.44352230dup	GRCh38
NC_000017.10:g.42429598dup , CM000679.1:g.42429598dup	GRCh37
NC_000017.9:g.39785124dup	NCBI36
NG_007886.1:g.12108dup , LRG_661:g.12108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1395dup MANE Select	ENSP00000053867.2:p.Cys466LeufsTer?
ENST00000639447.1:c.1137-299dup	ENSP00000492014.1:n.1137-299dup
ENST00000053867.7:c.1395dup	ENSP00000053867.2:p.Cys466LeufsTer?
ENST00000586242.1:c.29dup
ENST00000586443.1:c.836dup
ENST00000589265.5:c.924dup	ENSP00000467616.1:p.Cys309LeufsTer?
NM_002087.3:c.1395dup	NP_002078.1:p.Cys466LeufsTer?
XM_005257253.1:c.1395dup	XP_005257310.1:p.Cys466LeufsTer?
XM_024450730.1:c.1395dup	XP_024306498.1:p.Cys466LeufsTer?
NM_002087.4:c.1395dup MANE Select	NP_002078.1:p.Cys466LeufsTer?