Canonical Allele Identifier: CA891843550

Gene: GRN

Linked Data

• ClinVar Variation Id: 586216
• ClinVar RCV Id: RCV000712525
• dbSNP Id: rs1567887567
• MyVariant Identifiers: chr17:g.42429057_42429058dup (hg19) ; chr17:g.44351689_44351690dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351689_44351690dup , CM000679.2:g.44351689_44351690dup	GRCh38
NC_000017.10:g.42429057_42429058dup , CM000679.1:g.42429057_42429058dup	GRCh37
NC_000017.9:g.39784583_39784584dup	NCBI36
NG_007886.1:g.11567_11568dup , LRG_661:g.11567_11568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1073_1074dup MANE Select	ENSP00000053867.2:p.Ala359LysfsTer3
ENST00000639447.1:c.1073_1074dup	ENSP00000492014.1:p.Ala359LysfsTer3
ENST00000053867.7:c.1073_1074dup	ENSP00000053867.2:p.Ala359LysfsTer3
ENST00000586443.1:c.514_515dup
ENST00000589265.5:c.602_603dup	ENSP00000467616.1:p.Ala202LysfsTer3
ENST00000589923.1:n.331_332dup
NM_002087.3:c.1073_1074dup	NP_002078.1:p.Ala359LysfsTer3
XM_005257253.1:c.1073_1074dup	XP_005257310.1:p.Ala359LysfsTer3
XM_024450730.1:c.1073_1074dup	XP_024306498.1:p.Ala359LysfsTer3
NM_002087.4:c.1073_1074dup MANE Select	NP_002078.1:p.Ala359LysfsTer3