Canonical Allele Identifier: CA2576290564
Gene: GRN HGNC NCBI

Linked Data

gnomAD v4: 17-44352176-CACCAGCTGCCCGGTGGGGCAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352180_44352200del , CM000679.2:g.44352180_44352200del GRCh38
NC_000017.10:g.42429548_42429568del , CM000679.1:g.42429548_42429568del GRCh37
NC_000017.9:g.39785074_39785094del NCBI36
NG_007886.1:g.12058_12078del , LRG_661:g.12058_12078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1345_1365del MANE Select ENSP00000053867.2:p.Ser449_Thr455del
ENST00000639447.1:c.1137-349_1137-329del ENSP00000492014.1:n.1137-349_1137-329del
ENST00000053867.7:c.1345_1365del ENSP00000053867.2:p.Ser449_Thr455del
ENST00000586443.1:c.786_806del
ENST00000589265.5:c.874_894del ENSP00000467616.1:p.Ser292_Thr298del
NM_002087.3:c.1345_1365del NP_002078.1:p.Ser449_Thr455del
XM_005257253.1:c.1345_1365del XP_005257310.1:p.Ser449_Thr455del
XM_024450730.1:c.1345_1365del XP_024306498.1:p.Ser449_Thr455del
NM_002087.4:c.1345_1365del MANE Select NP_002078.1:p.Ser449_Thr455del
Search 100 bp 5'
Search 100 bp 3'