Canonical Allele Identifier: CA2740093759
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2942159
ClinVar RCV Id: RCV003805373

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352062del , CM000679.2:g.44352062del GRCh38
NC_000017.10:g.42429430del , CM000679.1:g.42429430del GRCh37
NC_000017.9:g.39784956del NCBI36
NG_007886.1:g.11940del , LRG_661:g.11940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1227del MANE Select ENSP00000053867.2:p.Cys410ValfsTer2
ENST00000639447.1:c.1136+310del ENSP00000492014.1:n.1136+310del
ENST00000053867.7:c.1227del ENSP00000053867.2:p.Cys410ValfsTer2
ENST00000586443.1:c.668del
ENST00000589265.5:c.756del ENSP00000467616.1:p.Cys253ValfsTer2
NM_002087.3:c.1227del NP_002078.1:p.Cys410ValfsTer2
XM_005257253.1:c.1227del XP_005257310.1:p.Cys410ValfsTer2
XM_024450730.1:c.1227del XP_024306498.1:p.Cys410ValfsTer2
NM_002087.4:c.1227del MANE Select NP_002078.1:p.Cys410ValfsTer2