Canonical Allele Identifier: CA2451531

Gene: RFT1

Linked Data

• dbSNP Id: rs772775534
• ExAC: 3:53157901 TAGAG / T
• gnomAD v2: 3-53157901-TAGAG-T
• gnomAD v3: 3-53123885-TAGAG-T
• gnomAD v4: 3-53123885-TAGAG-T
• MyVariant Identifiers: chr3:g.53157902_53157905del (hg19) ; chr3:g.53123886_53123889del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123889_53123892del , CM000665.2:g.53123889_53123892del	GRCh38
NC_000003.11:g.53157905_53157908del , CM000665.1:g.53157905_53157908del	GRCh37
NC_000003.10:g.53132945_53132948del	NCBI36
NG_009203.1:g.11566_11569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.150-49_150-46del MANE Select	ENSP00000296292.3:n.150-49_150-46del
ENST00000296292.7:c.150-49_150-46del	ENSP00000296292.3:n.150-49_150-46del
ENST00000394738.7:c.150-1326_150-1323del	ENSP00000378223.3:n.150-1326_150-1323del
ENST00000467048.1:c.150-49_150-46del	ENSP00000420325.1:n.150-49_150-46del
NM_052859.3:c.150-49_150-46del	NP_443091.1:n.150-49_150-46del
XM_005265537.3:c.150-49_150-46del	XP_005265594.1:n.150-49_150-46del
XM_006713384.2:c.150-49_150-46del	XP_006713447.1:n.150-49_150-46del
XM_011534214.1:c.150-49_150-46del	XP_011532516.1:n.150-49_150-46del
XM_011534215.1:c.150-49_150-46del	XP_011532517.1:n.150-49_150-46del
XR_940507.1:n.209-49_209-46del
XM_005265537.4:c.150-49_150-46del	XP_005265594.1:n.150-49_150-46del
XM_006713384.3:c.150-49_150-46del	XP_006713447.1:n.150-49_150-46del
XM_011534214.2:c.150-49_150-46del	XP_011532516.1:n.150-49_150-46del
XM_011534215.3:c.150-49_150-46del	XP_011532517.1:n.150-49_150-46del
XM_011534216.3:c.-691-49_-691-46del	XP_011532518.1:n.-691-49_-691-46del
XM_017007460.1:c.150-49_150-46del	XP_016862949.1:n.150-49_150-46del
XM_017007461.2:c.-691-49_-691-46del	XP_016862950.1:n.-691-49_-691-46del
XR_001740360.2:n.216-49_216-46del
NM_052859.4:c.150-49_150-46del MANE Select	NP_443091.1:n.150-49_150-46del