Canonical Allele Identifier: CA8602090

Gene: GRN

Linked Data

• ClinVar Variation Id: 444404
• ClinVar RCV Id: RCV000512785 ; RCV002476024
• dbSNP Id: rs751373342
• ExAC: 17:42429018 TGGA / T
• gnomAD v2: 17-42429018-TGGA-T
• gnomAD v3: 17-44351650-TGGA-T
• gnomAD v4: 17-44351650-TGGA-T
• MyVariant Identifiers: chr17:g.42429019_42429021del (hg19) ; chr17:g.44351651_44351653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351652_44351654del , CM000679.2:g.44351652_44351654del	GRCh38
NC_000017.10:g.42429020_42429022del , CM000679.1:g.42429020_42429022del	GRCh37
NC_000017.9:g.39784546_39784548del	NCBI36
NG_007886.1:g.11530_11532del , LRG_661:g.11530_11532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1036_1038del MANE Select	ENSP00000053867.2:p.Glu346del
ENST00000639447.1:c.1036_1038del	ENSP00000492014.1:p.Glu346del
ENST00000053867.7:c.1036_1038del	ENSP00000053867.2:p.Glu346del
ENST00000586443.1:c.477_479del
ENST00000589265.5:c.565_567del	ENSP00000467616.1:p.Glu189del
ENST00000589923.1:n.294_296del
NM_002087.3:c.1036_1038del	NP_002078.1:p.Glu346del
XM_005257253.1:c.1036_1038del	XP_005257310.1:p.Glu346del
XM_024450730.1:c.1036_1038del	XP_024306498.1:p.Glu346del
NM_002087.4:c.1036_1038del MANE Select	NP_002078.1:p.Glu346del