Canonical Allele Identifier: CA2695226229
Gene: GRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351630del , CM000679.2:g.44351630del GRCh38
NC_000017.10:g.42428998del , CM000679.1:g.42428998del GRCh37
NC_000017.9:g.39784524del NCBI36
NG_007886.1:g.11508del , LRG_661:g.11508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1014del MANE Select ENSP00000053867.2:p.His340ThrfsTer21
ENST00000639447.1:c.1014del ENSP00000492014.1:p.His340ThrfsTer21
ENST00000053867.7:c.1014del ENSP00000053867.2:p.His340ThrfsTer21
ENST00000586443.1:c.455del
ENST00000589265.5:c.543del ENSP00000467616.1:p.His183ThrfsTer21
ENST00000589923.1:n.272del
NM_002087.3:c.1014del NP_002078.1:p.His340ThrfsTer21
XM_005257253.1:c.1014del XP_005257310.1:p.His340ThrfsTer21
XM_024450730.1:c.1014del XP_024306498.1:p.His340ThrfsTer21
NM_002087.4:c.1014del MANE Select NP_002078.1:p.His340ThrfsTer21