Canonical Allele Identifier: CA951270

Gene: GFI1

Linked Data

• ClinVar Variation Id: 402897
• ClinVar RCV Id: RCV000454714 ; RCV001522103 ; RCV001528433 ; RCV002502596 ; RCV003972708
• dbSNP Id: rs35896485
• ExAC: 1:92944314 C / CAG
• gnomAD v3: 1-92478757-C-CAG
• gnomAD v4: 1-92478757-C-CAG
• MyVariant Identifiers: chr1:g.92944324_92944325insAG (hg19) ; chr1:g.92944320_92944321insAG (hg19) ; chr1:g.92944314_92944315insAG (hg19) ; chr1:g.92478757_92478758insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92478793_92478794dup , CM000663.2:g.92478793_92478794dup	GRCh38
NC_000001.10:g.92944350_92944351dup , CM000663.1:g.92944350_92944351dup	GRCh37
NC_000001.9:g.92716938_92716939dup	NCBI36
NG_007874.1:g.13118_13119dup , LRG_63:g.13118_13119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427103.6:c.925-6_925-5dup	ENSP00000399719.1:n.925-6_925-5dup
ENST00000696667.1:c.138+1589_138+1590dup	ENSP00000512792.1:n.138+1589_138+1590dup
ENST00000294702.6:c.925-6_925-5dup MANE Select	ENSP00000294702.5:n.925-6_925-5dup
ENST00000294702.5:c.925-6_925-5dup	ENSP00000294702.5:n.925-6_925-5dup
ENST00000370332.5:c.925-6_925-5dup	ENSP00000359357.1:n.925-6_925-5dup
ENST00000427103.5:c.925-6_925-5dup	ENSP00000399719.1:n.925-6_925-5dup
NM_001127215.1:c.925-6_925-5dup	NP_001120687.1:n.925-6_925-5dup
NM_001127216.1:c.925-6_925-5dup	NP_001120688.1:n.925-6_925-5dup
NM_005263.3:c.925-6_925-5dup , LRG_63t1:c.925-6_925-5dup	NP_005254.2:n.925-6_925-5dup
XM_005270749.3:c.925-6_925-5dup	XP_005270806.1:n.925-6_925-5dup
XM_011541245.1:c.925-6_925-5dup	XP_011539547.1:n.925-6_925-5dup
XM_011541246.1:c.925-6_925-5dup	XP_011539548.1:n.925-6_925-5dup
NM_001127215.2:c.925-6_925-5dup	NP_001120687.1:n.925-6_925-5dup
NM_001127216.2:c.925-6_925-5dup	NP_001120688.1:n.925-6_925-5dup
NM_005263.4:c.925-6_925-5dup	NP_005254.2:n.925-6_925-5dup
XM_011541245.2:c.925-6_925-5dup	XP_011539547.1:n.925-6_925-5dup
XM_011541246.2:c.925-6_925-5dup	XP_011539548.1:n.925-6_925-5dup
NM_005263.5:c.925-6_925-5dup MANE Select	NP_005254.2:n.925-6_925-5dup
NM_001127215.3:c.925-6_925-5dup	NP_001120687.1:n.925-6_925-5dup
NM_001127216.3:c.925-6_925-5dup	NP_001120688.1:n.925-6_925-5dup