Canonical Allele Identifier: CA542921544

Gene: RFT1

Linked Data

• dbSNP Id: rs1207412409
• gnomAD v2: 3-53157714-G-GT
• gnomAD v3: 3-53123698-G-GT
• gnomAD v4: 3-53123698-G-GT
• MyVariant Identifiers: chr3:g.53157714_53157715insT (hg19) ; chr3:g.53123698_53123699insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53123699dup , CM000665.2:g.53123699dup	GRCh38
NC_000003.11:g.53157715dup , CM000665.1:g.53157715dup	GRCh37
NC_000003.10:g.53132755dup	NCBI36
NG_009203.1:g.11756dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000296292.8:c.266+25dup MANE Select	ENSP00000296292.3:n.266+25dup
ENST00000296292.7:c.266+25dup	ENSP00000296292.3:n.266+25dup
ENST00000394738.7:c.150-1136dup	ENSP00000378223.3:n.150-1136dup
ENST00000467048.1:c.266+25dup	ENSP00000420325.1:n.266+25dup
NM_052859.3:c.266+25dup	NP_443091.1:n.266+25dup
XM_005265537.3:c.266+25dup	XP_005265594.1:n.266+25dup
XM_006713384.2:c.266+25dup	XP_006713447.1:n.266+25dup
XM_011534214.1:c.266+25dup	XP_011532516.1:n.266+25dup
XM_011534215.1:c.266+25dup	XP_011532517.1:n.266+25dup
XR_940507.1:n.325+25dup
XM_005265537.4:c.266+25dup	XP_005265594.1:n.266+25dup
XM_006713384.3:c.266+25dup	XP_006713447.1:n.266+25dup
XM_011534214.2:c.266+25dup	XP_011532516.1:n.266+25dup
XM_011534215.3:c.266+25dup	XP_011532517.1:n.266+25dup
XM_011534216.3:c.-575+25dup	XP_011532518.1:n.-575+25dup
XM_017007460.1:c.266+25dup	XP_016862949.1:n.266+25dup
XM_017007461.2:c.-575+25dup	XP_016862950.1:n.-575+25dup
XR_001740360.2:n.332+25dup
NM_052859.4:c.266+25dup MANE Select	NP_443091.1:n.266+25dup