Canonical Allele Identifier: CA2666104949

Gene: RFT1

Linked Data

• gnomAD v4: 3-53123758-CTCGCTGGGTGCCCCCACTGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123759_53123780del , CM000665.2:g.53123759_53123780del	GRCh38
NC_000003.11:g.53157775_53157796del , CM000665.1:g.53157775_53157796del	GRCh37
NC_000003.10:g.53132815_53132836del	NCBI36
NG_009203.1:g.11675_11696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.210_231del MANE Select	ENSP00000296292.3:p.Cys70TrpfsTer12
ENST00000296292.7:c.210_231del	ENSP00000296292.3:p.Cys70TrpfsTer12
ENST00000394738.7:c.150-1217_150-1196del	ENSP00000378223.3:n.150-1217_150-1196del
ENST00000467048.1:c.210_231del	ENSP00000420325.1:p.Cys70TrpfsTer12
NM_052859.3:c.210_231del	NP_443091.1:p.Cys70TrpfsTer12
XM_005265537.3:c.210_231del	XP_005265594.1:p.Cys70TrpfsTer12
XM_006713384.2:c.210_231del	XP_006713447.1:p.Cys70TrpfsTer12
XM_011534214.1:c.210_231del	XP_011532516.1:p.Cys70TrpfsTer12
XM_011534215.1:c.210_231del	XP_011532517.1:p.Cys70TrpfsTer12
XR_940507.1:n.269_290del
XM_005265537.4:c.210_231del	XP_005265594.1:p.Cys70TrpfsTer12
XM_006713384.3:c.210_231del	XP_006713447.1:p.Cys70TrpfsTer12
XM_011534214.2:c.210_231del	XP_011532516.1:p.Cys70TrpfsTer12
XM_011534215.3:c.210_231del	XP_011532517.1:p.Cys70TrpfsTer12
XM_011534216.3:c.-631_-610del	XP_011532518.1:n.-631_-610del
XM_017007460.1:c.210_231del	XP_016862949.1:p.Cys70TrpfsTer12
XM_017007461.2:c.-631_-610del	XP_016862950.1:n.-631_-610del
XR_001740360.2:n.276_297del
NM_052859.4:c.210_231del MANE Select	NP_443091.1:p.Cys70TrpfsTer12