Canonical Allele Identifier: CA2695226239
Gene: GRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352194dup , CM000679.2:g.44352194dup GRCh38
NC_000017.10:g.42429562dup , CM000679.1:g.42429562dup GRCh37
NC_000017.9:g.39785088dup NCBI36
NG_007886.1:g.12072dup , LRG_661:g.12072dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1359dup MANE Select ENSP00000053867.2:p.Gln454AlafsTer?
ENST00000639447.1:c.1137-335dup ENSP00000492014.1:n.1137-335dup
ENST00000053867.7:c.1359dup ENSP00000053867.2:p.Gln454AlafsTer?
ENST00000586443.1:c.800dup
ENST00000589265.5:c.888dup ENSP00000467616.1:p.Gln297AlafsTer?
NM_002087.3:c.1359dup NP_002078.1:p.Gln454AlafsTer?
XM_005257253.1:c.1359dup XP_005257310.1:p.Gln454AlafsTer?
XM_024450730.1:c.1359dup XP_024306498.1:p.Gln454AlafsTer?
NM_002087.4:c.1359dup MANE Select NP_002078.1:p.Gln454AlafsTer?