Canonical Allele Identifier: CA2666104948

Gene: RFT1

Linked Data

• gnomAD v4: 3-53123753-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123754_53123755del , CM000665.2:g.53123754_53123755del	GRCh38
NC_000003.11:g.53157770_53157771del , CM000665.1:g.53157770_53157771del	GRCh37
NC_000003.10:g.53132810_53132811del	NCBI36
NG_009203.1:g.11700_11701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.235_236del MANE Select	ENSP00000296292.3:p.Trp79GlufsTer30
ENST00000296292.7:c.235_236del	ENSP00000296292.3:p.Trp79GlufsTer30
ENST00000394738.7:c.150-1192_150-1191del	ENSP00000378223.3:n.150-1192_150-1191del
ENST00000467048.1:c.235_236del	ENSP00000420325.1:p.Trp79GlufsTer30
NM_052859.3:c.235_236del	NP_443091.1:p.Trp79GlufsTer30
XM_005265537.3:c.235_236del	XP_005265594.1:p.Trp79GlufsTer30
XM_006713384.2:c.235_236del	XP_006713447.1:p.Trp79GlufsTer30
XM_011534214.1:c.235_236del	XP_011532516.1:p.Trp79GlufsTer30
XM_011534215.1:c.235_236del	XP_011532517.1:p.Trp79GlufsTer30
XR_940507.1:n.294_295del
XM_005265537.4:c.235_236del	XP_005265594.1:p.Trp79GlufsTer30
XM_006713384.3:c.235_236del	XP_006713447.1:p.Trp79GlufsTer30
XM_011534214.2:c.235_236del	XP_011532516.1:p.Trp79GlufsTer30
XM_011534215.3:c.235_236del	XP_011532517.1:p.Trp79GlufsTer30
XM_011534216.3:c.-606_-605del	XP_011532518.1:n.-606_-605del
XM_017007460.1:c.235_236del	XP_016862949.1:p.Trp79GlufsTer30
XM_017007461.2:c.-606_-605del	XP_016862950.1:n.-606_-605del
XR_001740360.2:n.301_302del
NM_052859.4:c.235_236del MANE Select	NP_443091.1:p.Trp79GlufsTer30