Canonical Allele Identifier: CA10619232

Gene: RFT1

Linked Data

• ClinVar Variation Id: 346138
• ClinVar RCV Id: RCV000260052
• dbSNP Id: rs886058711
• gnomAD v2: 3-53122863-AAAG-A
• gnomAD v3: 3-53088847-AAAG-A
• gnomAD v4: 3-53088847-AAAG-A
• MyVariant Identifiers: chr3:g.53122864_53122866del (hg19) ; chr3:g.53088848_53088850del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53088850_53088852del , CM000665.2:g.53088850_53088852del	GRCh38
NC_000003.11:g.53122866_53122868del , CM000665.1:g.53122866_53122868del	GRCh37
NC_000003.10:g.53097906_53097908del	NCBI36
NG_009203.1:g.46605_46607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296292.8:c.*3053_*3055del MANE Select	ENSP00000296292.3:n.*3053_*3055del
ENST00000296292.7:c.*3053_*3055del	ENSP00000296292.3:n.*3053_*3055del
ENST00000607203.1:c.74-2998_74-2996del
ENST00000607283.5:c.323+3519_323+3521del
ENST00000607495.5:c.73+10531_73+10533del
NM_052859.3:c.*3053_*3055del	NP_443091.1:n.*3053_*3055del
XM_006713384.2:c.1209-2998_1209-2996del	XP_006713447.1:n.1209-2998_1209-2996del
XM_011534214.1:c.1208+10531_1208+10533del	XP_011532516.1:n.1208+10531_1208+10533del
XM_011534215.1:c.1208+10531_1208+10533del	XP_011532517.1:n.1208+10531_1208+10533del
XM_011534216.1:c.*3053_*3055del	XP_011532518.1:n.*3053_*3055del
XR_940507.1:n.1268-2998_1268-2996del
XM_006713384.3:c.1209-2998_1209-2996del	XP_006713447.1:n.1209-2998_1209-2996del
XM_011534214.2:c.1208+10531_1208+10533del	XP_011532516.1:n.1208+10531_1208+10533del
XM_011534215.3:c.1208+10531_1208+10533del	XP_011532517.1:n.1208+10531_1208+10533del
XM_017007460.1:c.1458+3519_1458+3521del	XP_016862949.1:n.1458+3519_1458+3521del
NM_052859.4:c.*3053_*3055del MANE Select	NP_443091.1:n.*3053_*3055del