Canonical Allele Identifier: CA225307

Gene: GRN

Linked Data

• ClinVar Variation Id: 98167
• ClinVar RCV Id: RCV000084470 ; RCV002281921
• dbSNP Id: rs63750873
• MyVariant Identifiers: chr17:g.42428982del (hg19) ; chr17:g.44351614del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351614del , CM000679.2:g.44351614del	GRCh38
NC_000017.10:g.42428982del , CM000679.1:g.42428982del	GRCh37
NC_000017.9:g.39784508del	NCBI36
NG_007886.1:g.11492del , LRG_661:g.11492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.998del MANE Select	ENSP00000053867.2:p.Gly333ValfsTer28
ENST00000639447.1:c.998del	ENSP00000492014.1:p.Gly333ValfsTer28
ENST00000053867.7:c.998del	ENSP00000053867.2:p.Gly333ValfsTer28
ENST00000586443.1:c.439del
ENST00000589265.5:c.527del	ENSP00000467616.1:p.Gly176ValfsTer28
ENST00000589923.1:n.256del
NM_002087.3:c.998del	NP_002078.1:p.Gly333ValfsTer28
XM_005257253.1:c.998del	XP_005257310.1:p.Gly333ValfsTer28
XM_024450730.1:c.998del	XP_024306498.1:p.Gly333ValfsTer28
NM_002087.4:c.998del MANE Select	NP_002078.1:p.Gly333ValfsTer28