Canonical Allele Identifier: CA8601862
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1412923
ClinVar RCV Id: RCV001925611 RCV002290799
dbSNP Id: rs758168578
ExAC: 17:42427597 TAAC / T
gnomAD v2: 17-42427597-TAAC-T
gnomAD v3: 17-44350229-TAAC-T
gnomAD v4: 17-44350229-TAAC-T
MyVariant Identifiers: chr17:g.42427598_42427600del (hg19) chr17:g.44350230_44350232del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44350233_44350235del , CM000679.2:g.44350233_44350235del GRCh38
NC_000017.10:g.42427601_42427603del , CM000679.1:g.42427601_42427603del GRCh37
NC_000017.9:g.39783127_39783129del NCBI36
NG_007886.1:g.10111_10113del , LRG_661:g.10111_10113del

Transcript Alleles

HGVS Amino-acid change
ENST00000053867.8:c.355_357del MANE Select ENSP00000053867.2:p.Asn119del
ENST00000639447.1:c.355_357del ENSP00000492014.1:p.Asn119del
ENST00000053867.7:c.355_357del ENSP00000053867.2:p.Asn119del
ENST00000586782.5:c.355_357del ENSP00000468318.1:p.Asn119del
ENST00000587387.5:c.397_399del ENSP00000467431.1:p.Asn133del
ENST00000587518.5:c.355_357del ENSP00000465518.1:p.Asn119del
ENST00000588143.5:c.355_357del ENSP00000465375.1:p.Asn119del
ENST00000588237.5:c.265-209_265-207del ENSP00000466611.1:n.265-209_265-207del
ENST00000589265.5:c.355_357del ENSP00000467616.1:p.Asn119del
ENST00000591740.5:c.355_357del ENSP00000467022.1:p.Asn119del
ENST00000592783.5:c.355_357del ENSP00000467870.1:p.Asn119del
ENST00000593167.5:c.355_357del ENSP00000466405.1:p.Asn119del
NM_002087.3:c.355_357del NP_002078.1:p.Asn119del
XM_005257253.1:c.355_357del XP_005257310.1:p.Asn119del
XM_024450730.1:c.355_357del XP_024306498.1:p.Asn119del
NM_002087.4:c.355_357del MANE Select NP_002078.1:p.Asn119del
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