Canonical Allele Identifier: CA2638210373
Gene: GRN HGNC NCBI

Linked Data

gnomAD v4: 17-44352066-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352067dup , CM000679.2:g.44352067dup GRCh38
NC_000017.10:g.42429435dup , CM000679.1:g.42429435dup GRCh37
NC_000017.9:g.39784961dup NCBI36
NG_007886.1:g.11945dup , LRG_661:g.11945dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1232dup MANE Select ENSP00000053867.2:p.Ala412SerfsTer2
ENST00000639447.1:c.1136+315dup ENSP00000492014.1:n.1136+315dup
ENST00000053867.7:c.1232dup ENSP00000053867.2:p.Ala412SerfsTer2
ENST00000586443.1:c.673dup
ENST00000589265.5:c.761dup ENSP00000467616.1:p.Ala255SerfsTer2
NM_002087.3:c.1232dup NP_002078.1:p.Ala412SerfsTer2
XM_005257253.1:c.1232dup XP_005257310.1:p.Ala412SerfsTer2
XM_024450730.1:c.1232dup XP_024306498.1:p.Ala412SerfsTer2
NM_002087.4:c.1232dup MANE Select NP_002078.1:p.Ala412SerfsTer2
Search 100 bp 5'
Search 100 bp 3'