Canonical Allele Identifier: CA10610423
Gene: GFI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298183
ClinVar RCV Id: RCV000354552 RCV000537047 RCV001642919 RCV003982999
dbSNP Id: rs35896485
gnomAD v2: 1-92944314-C-CAGAGAGAGAG
gnomAD v3: 1-92478757-C-CAGAGAGAGAG
gnomAD v4: 1-92478757-C-CAGAGAGAGAG
MyVariant Identifiers: chr1:g.92944315_92944324dupAGAGAGAGAG (hg19) chr1:g.92944320_92944321insAGAGAGAGAG (hg19) chr1:g.92944314_92944315insAGAGAGAGAG (hg19) chr1:g.92478758_92478767dupAGAGAGAGAG (hg38) chr1:g.92478763_92478764insAGAGAGAGAG (hg38) chr1:g.92478757_92478758insAGAGAGAGAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92478785_92478794dup , CM000663.2:g.92478785_92478794dup GRCh38
NC_000001.10:g.92944342_92944351dup , CM000663.1:g.92944342_92944351dup GRCh37
NC_000001.9:g.92716930_92716939dup NCBI36
NG_007874.1:g.13110_13119dup , LRG_63:g.13110_13119dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000427103.6:c.925-14_925-5dup ENSP00000399719.1:n.925-14_925-5dup
ENST00000696667.1:c.138+1581_138+1590dup ENSP00000512792.1:n.138+1581_138+1590dup
ENST00000294702.6:c.925-14_925-5dup MANE Select ENSP00000294702.5:n.925-14_925-5dup
ENST00000294702.5:c.925-14_925-5dup ENSP00000294702.5:n.925-14_925-5dup
ENST00000370332.5:c.925-14_925-5dup ENSP00000359357.1:n.925-14_925-5dup
ENST00000427103.5:c.925-14_925-5dup ENSP00000399719.1:n.925-14_925-5dup
NM_001127215.1:c.925-14_925-5dup NP_001120687.1:n.925-14_925-5dup
NM_001127216.1:c.925-14_925-5dup NP_001120688.1:n.925-14_925-5dup
NM_005263.3:c.925-14_925-5dup , LRG_63t1:c.925-14_925-5dup NP_005254.2:n.925-14_925-5dup
XM_005270749.3:c.925-14_925-5dup XP_005270806.1:n.925-14_925-5dup
XM_011541245.1:c.925-14_925-5dup XP_011539547.1:n.925-14_925-5dup
XM_011541246.1:c.925-14_925-5dup XP_011539548.1:n.925-14_925-5dup
NM_001127215.2:c.925-14_925-5dup NP_001120687.1:n.925-14_925-5dup
NM_001127216.2:c.925-14_925-5dup NP_001120688.1:n.925-14_925-5dup
NM_005263.4:c.925-14_925-5dup NP_005254.2:n.925-14_925-5dup
XM_011541245.2:c.925-14_925-5dup XP_011539547.1:n.925-14_925-5dup
XM_011541246.2:c.925-14_925-5dup XP_011539548.1:n.925-14_925-5dup
NM_005263.5:c.925-14_925-5dup MANE Select NP_005254.2:n.925-14_925-5dup
NM_001127215.3:c.925-14_925-5dup NP_001120687.1:n.925-14_925-5dup
NM_001127216.3:c.925-14_925-5dup NP_001120688.1:n.925-14_925-5dup
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