Canonical Allele Identifier: CA225311

Gene: GRN

Linked Data

• ClinVar Variation Id: 98169
• ClinVar RCV Id: RCV000017389 ; RCV000084472 ; RCV001854478
• dbSNP Id: rs63749905

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351760dup , CM000679.2:g.44351760dup	GRCh38
NC_000017.10:g.42429128dup , CM000679.1:g.42429128dup	GRCh37
NC_000017.9:g.39784654dup	NCBI36
NG_007886.1:g.11638dup , LRG_661:g.11638dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1144dup MANE Select	ENSP00000053867.2:p.Thr382AsnfsTer?
ENST00000639447.1:c.1136+8dup	ENSP00000492014.1:n.1136+8dup
ENST00000053867.7:c.1144dup	ENSP00000053867.2:p.Thr382AsnfsTer?
ENST00000586443.1:c.585dup
ENST00000589265.5:c.673dup	ENSP00000467616.1:p.Thr225AsnfsTer?
ENST00000589923.1:n.402dup
NM_002087.3:c.1144dup	NP_002078.1:p.Thr382AsnfsTer?
XM_005257253.1:c.1144dup	XP_005257310.1:p.Thr382AsnfsTer?
XM_024450730.1:c.1144dup	XP_024306498.1:p.Thr382AsnfsTer?
NM_002087.4:c.1144dup MANE Select	NP_002078.1:p.Thr382AsnfsTer?