Canonical Allele Identifier: CA2832528778
Gene: GRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351670_44351676dup , CM000679.2:g.44351670_44351676dup GRCh38
NC_000017.10:g.42429038_42429044dup , CM000679.1:g.42429038_42429044dup GRCh37
NC_000017.9:g.39784564_39784570dup NCBI36
NG_007886.1:g.11548_11554dup , LRG_661:g.11548_11554dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1054_1060dup MANE Select ENSP00000053867.2:p.Leu354ProfsTer16
ENST00000639447.1:c.1054_1060dup ENSP00000492014.1:p.Leu354ProfsTer16
ENST00000053867.7:c.1054_1060dup ENSP00000053867.2:p.Leu354ProfsTer16
ENST00000586443.1:c.495_501dup
ENST00000589265.5:c.583_589dup ENSP00000467616.1:p.Leu197ProfsTer16
ENST00000589923.1:n.312_318dup
NM_002087.3:c.1054_1060dup NP_002078.1:p.Leu354ProfsTer16
XM_005257253.1:c.1054_1060dup XP_005257310.1:p.Leu354ProfsTer16
XM_024450730.1:c.1054_1060dup XP_024306498.1:p.Leu354ProfsTer16
NM_002087.4:c.1054_1060dup MANE Select NP_002078.1:p.Leu354ProfsTer16