Canonical Allele Identifier: CA908138206

Gene: RFT1

Linked Data

• dbSNP Id: rs1451230172
• gnomAD v2: 3-53158165-GAGA-G
• gnomAD v3: 3-53124149-GAGA-G
• gnomAD v4: 3-53124149-GAGA-G
• MyVariant Identifiers: chr3:g.53158166_53158168del (hg19) ; chr3:g.53124150_53124152del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53124156_53124158del , CM000665.2:g.53124156_53124158del	GRCh38
NC_000003.11:g.53158172_53158174del , CM000665.1:g.53158172_53158174del	GRCh37
NC_000003.10:g.53133212_53133214del	NCBI36
NG_009203.1:g.11303_11305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.150-312_150-310del MANE Select	ENSP00000296292.3:n.150-312_150-310del
ENST00000296292.7:c.150-312_150-310del	ENSP00000296292.3:n.150-312_150-310del
ENST00000394738.7:c.150-1589_150-1587del	ENSP00000378223.3:n.150-1589_150-1587del
ENST00000467048.1:c.150-312_150-310del	ENSP00000420325.1:n.150-312_150-310del
NM_052859.3:c.150-312_150-310del	NP_443091.1:n.150-312_150-310del
XM_005265537.3:c.150-312_150-310del	XP_005265594.1:n.150-312_150-310del
XM_006713384.2:c.150-312_150-310del	XP_006713447.1:n.150-312_150-310del
XM_011534214.1:c.150-312_150-310del	XP_011532516.1:n.150-312_150-310del
XM_011534215.1:c.150-312_150-310del	XP_011532517.1:n.150-312_150-310del
XR_940507.1:n.209-312_209-310del
XM_005265537.4:c.150-312_150-310del	XP_005265594.1:n.150-312_150-310del
XM_006713384.3:c.150-312_150-310del	XP_006713447.1:n.150-312_150-310del
XM_011534214.2:c.150-312_150-310del	XP_011532516.1:n.150-312_150-310del
XM_011534215.3:c.150-312_150-310del	XP_011532517.1:n.150-312_150-310del
XM_011534216.3:c.-691-312_-691-310del	XP_011532518.1:n.-691-312_-691-310del
XM_017007460.1:c.150-312_150-310del	XP_016862949.1:n.150-312_150-310del
XM_017007461.2:c.-691-312_-691-310del	XP_016862950.1:n.-691-312_-691-310del
XR_001740360.2:n.216-312_216-310del
NM_052859.4:c.150-312_150-310del MANE Select	NP_443091.1:n.150-312_150-310del