Canonical Allele Identifier: CA951274

Gene: GFI1

Linked Data

• ClinVar Variation Id: 298185
• ClinVar RCV Id: RCV000376604 ; RCV001612935 ; RCV001523643 ; RCV002502182
• dbSNP Id: rs35896485
• ExAC: 1:92944314 CAGAGAG / C
• gnomAD v2: 1-92944314-CAGAGAG-C
• gnomAD v3: 1-92478757-CAGAGAG-C
• gnomAD v4: 1-92478757-CAGAGAG-C
• MyVariant Identifiers: chr1:g.92944319_92944324del (hg19) ; chr1:g.92944315_92944320del (hg19) ; chr1:g.92478758_92478763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92478789_92478794del , CM000663.2:g.92478789_92478794del	GRCh38
NC_000001.10:g.92944346_92944351del , CM000663.1:g.92944346_92944351del	GRCh37
NC_000001.9:g.92716934_92716939del	NCBI36
NG_007874.1:g.13114_13119del , LRG_63:g.13114_13119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427103.6:c.925-10_925-5del	ENSP00000399719.1:n.925-10_925-5del
ENST00000696667.1:c.138+1585_138+1590del	ENSP00000512792.1:n.138+1585_138+1590del
ENST00000294702.6:c.925-10_925-5del MANE Select	ENSP00000294702.5:n.925-10_925-5del
ENST00000294702.5:c.925-10_925-5del	ENSP00000294702.5:n.925-10_925-5del
ENST00000370332.5:c.925-10_925-5del	ENSP00000359357.1:n.925-10_925-5del
ENST00000427103.5:c.925-10_925-5del	ENSP00000399719.1:n.925-10_925-5del
NM_001127215.1:c.925-10_925-5del	NP_001120687.1:n.925-10_925-5del
NM_001127216.1:c.925-10_925-5del	NP_001120688.1:n.925-10_925-5del
NM_005263.3:c.925-10_925-5del , LRG_63t1:c.925-10_925-5del	NP_005254.2:n.925-10_925-5del
XM_005270749.3:c.925-10_925-5del	XP_005270806.1:n.925-10_925-5del
XM_011541245.1:c.925-10_925-5del	XP_011539547.1:n.925-10_925-5del
XM_011541246.1:c.925-10_925-5del	XP_011539548.1:n.925-10_925-5del
NM_001127215.2:c.925-10_925-5del	NP_001120687.1:n.925-10_925-5del
NM_001127216.2:c.925-10_925-5del	NP_001120688.1:n.925-10_925-5del
NM_005263.4:c.925-10_925-5del	NP_005254.2:n.925-10_925-5del
XM_011541245.2:c.925-10_925-5del	XP_011539547.1:n.925-10_925-5del
XM_011541246.2:c.925-10_925-5del	XP_011539548.1:n.925-10_925-5del
NM_005263.5:c.925-10_925-5del MANE Select	NP_005254.2:n.925-10_925-5del
NM_001127215.3:c.925-10_925-5del	NP_001120687.1:n.925-10_925-5del
NM_001127216.3:c.925-10_925-5del	NP_001120688.1:n.925-10_925-5del