Canonical Allele Identifier: CA2573153932
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1371968
ClinVar RCV Id: RCV001872638
dbSNP Id: rs2143342203

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351769del , CM000679.2:g.44351769del GRCh38
NC_000017.10:g.42429137del , CM000679.1:g.42429137del GRCh37
NC_000017.9:g.39784663del NCBI36
NG_007886.1:g.11647del , LRG_661:g.11647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1153del MANE Select ENSP00000053867.2:p.Glu385SerfsTer27
ENST00000639447.1:c.1136+17del ENSP00000492014.1:n.1136+17del
ENST00000053867.7:c.1153del ENSP00000053867.2:p.Glu385SerfsTer27
ENST00000586443.1:c.594del
ENST00000589265.5:c.682del ENSP00000467616.1:p.Glu228SerfsTer27
ENST00000589923.1:n.411del
NM_002087.3:c.1153del NP_002078.1:p.Glu385SerfsTer27
XM_005257253.1:c.1153del XP_005257310.1:p.Glu385SerfsTer27
XM_024450730.1:c.1153del XP_024306498.1:p.Glu385SerfsTer27
NM_002087.4:c.1153del MANE Select NP_002078.1:p.Glu385SerfsTer27