Canonical Allele Identifier: CA8602175
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2072556
ClinVar RCV Id: RCV002967188
dbSNP Id: rs746307128
ExAC: 17:42429548 AGCTGCCCGGTGGGGCAGACCT / A
gnomAD v2: 17-42429548-AGCTGCCCGGTGGGGCAGACCT-A
gnomAD v3: 17-44352180-AGCTGCCCGGTGGGGCAGACCT-A
gnomAD v4: 17-44352180-AGCTGCCCGGTGGGGCAGACCT-A
MyVariant Identifiers: chr17:g.42429549_42429569del (hg19) chr17:g.44352181_44352201del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352189_44352209del , CM000679.2:g.44352189_44352209del GRCh38
NC_000017.10:g.42429557_42429577del , CM000679.1:g.42429557_42429577del GRCh37
NC_000017.9:g.39785083_39785103del NCBI36
NG_007886.1:g.12067_12087del , LRG_661:g.12067_12087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1354_1374del MANE Select ENSP00000053867.2:p.Val452_Pro458del
ENST00000639447.1:c.1137-340_1137-320del ENSP00000492014.1:n.1137-340_1137-320del
ENST00000053867.7:c.1354_1374del ENSP00000053867.2:p.Val452_Pro458del
ENST00000586443.1:c.795_815del
ENST00000589265.5:c.883_903del ENSP00000467616.1:p.Val295_Pro301del
NM_002087.3:c.1354_1374del NP_002078.1:p.Val452_Pro458del
XM_005257253.1:c.1354_1374del XP_005257310.1:p.Val452_Pro458del
XM_024450730.1:c.1354_1374del XP_024306498.1:p.Val452_Pro458del
NM_002087.4:c.1354_1374del MANE Select NP_002078.1:p.Val452_Pro458del
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