Canonical Allele Identifier: CA7826111

Gene: GFER

Linked Data

• ClinVar Variation Id: 1301014
• ClinVar RCV Id: RCV001733140
• dbSNP Id: rs776890492
• ExAC: 16:2036027 T / TAG
• gnomAD v2: 16-2036027-T-TAG
• gnomAD v3: 16-1986026-T-TAG
• gnomAD v4: 16-1986026-T-TAG
• MyVariant Identifiers: chr16:g.2036027_2036028insAG (hg19) ; chr16:g.1986026_1986027insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986029_1986030dup , CM000678.2:g.1986029_1986030dup	GRCh38
NC_000016.9:g.2036030_2036031dup , CM000678.1:g.2036030_2036031dup	GRCh37
NC_000016.8:g.1976031_1976032dup	NCBI36
NG_016288.1:g.6881_6882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.*1_*2dup	ENSP00000455885.1:n.*1_*2dup
ENST00000248114.7:c.*1_*2dup MANE Select	ENSP00000248114.6:n.*1_*2dup
ENST00000248114.6:c.*1_*2dup	ENSP00000248114.6:n.*1_*2dup
ENST00000565658.1:n.776_777dup
ENST00000567719.1:c.*1_*2dup	ENSP00000455885.1:n.*1_*2dup
ENST00000569451.1:c.*92_*93dup	ENSP00000456432.1:n.*92_*93dup
NM_005262.2:c.*1_*2dup	NP_005253.3:n.*1_*2dup
NM_005262.3:c.*1_*2dup MANE Select	NP_005253.3:n.*1_*2dup