Canonical Allele Identifier: CA325326

Gene: GFER

Linked Data

• ClinVar Variation Id: 214476
• ClinVar RCV Id: RCV000200750 ; RCV000508880 ; RCV001270124
• dbSNP Id: rs863224028
• ExAC: 16:2034415 TC / T
• gnomAD v2: 16-2034415-TC-T
• gnomAD v3: 16-1984414-TC-T
• gnomAD v4: 16-1984414-TC-T
• MyVariant Identifiers: chr16:g.2034418del (hg19) ; chr16:g.2034416del (hg19) ; chr16:g.1984417del (hg38) ; chr16:g.1984415del (hg38)
• PubMed: PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1984417del , CM000678.2:g.1984417del	GRCh38
NC_000016.9:g.2034418del , CM000678.1:g.2034418del	GRCh37
NC_000016.8:g.1974419del	NCBI36
NG_016288.1:g.5269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248114.7:c.199del MANE Select	ENSP00000248114.6:p.Arg67GlyfsTer?
ENST00000248114.6:c.199del	ENSP00000248114.6:p.Arg67GlyfsTer?
ENST00000561710.1:c.160del	ENSP00000456189.1:p.Arg54GlyfsTer?
ENST00000565658.1:n.86del
ENST00000569451.1:c.199del	ENSP00000456432.1:p.Arg67GlyfsTer?
NM_005262.2:c.199del	NP_005253.3:p.Arg67GlyfsTer?
NM_005262.3:c.199del MANE Select	NP_005253.3:p.Arg67GlyfsTer?