Canonical Allele Identifier: CA2666104947

Gene: RFT1

Linked Data

• gnomAD v4: 3-53123727-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123728del , CM000665.2:g.53123728del	GRCh38
NC_000003.11:g.53157744del , CM000665.1:g.53157744del	GRCh37
NC_000003.10:g.53132784del	NCBI36
NG_009203.1:g.11727del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.262del MANE Select	ENSP00000296292.3:p.Leu88Ter
ENST00000296292.7:c.262del	ENSP00000296292.3:p.Leu88Ter
ENST00000394738.7:c.150-1165del	ENSP00000378223.3:n.150-1165del
ENST00000467048.1:c.262del	ENSP00000420325.1:p.Leu88Ter
NM_052859.3:c.262del	NP_443091.1:p.Leu88Ter
XM_005265537.3:c.262del	XP_005265594.1:p.Leu88Ter
XM_006713384.2:c.262del	XP_006713447.1:p.Leu88Ter
XM_011534214.1:c.262del	XP_011532516.1:p.Leu88Ter
XM_011534215.1:c.262del	XP_011532517.1:p.Leu88Ter
XR_940507.1:n.321del
XM_005265537.4:c.262del	XP_005265594.1:p.Leu88Ter
XM_006713384.3:c.262del	XP_006713447.1:p.Leu88Ter
XM_011534214.2:c.262del	XP_011532516.1:p.Leu88Ter
XM_011534215.3:c.262del	XP_011532517.1:p.Leu88Ter
XM_011534216.3:c.-579del	XP_011532518.1:n.-579del
XM_017007460.1:c.262del	XP_016862949.1:p.Leu88Ter
XM_017007461.2:c.-579del	XP_016862950.1:n.-579del
XR_001740360.2:n.328del
NM_052859.4:c.262del MANE Select	NP_443091.1:p.Leu88Ter