Canonical Allele Identifier: CA6041248

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs770879492
• ExAC: 11:61732429 CCATTT / C
• gnomAD v2: 11-61732429-CCATTT-C
• gnomAD v3: 11-61964957-CCATTT-C
• gnomAD v4: 11-61964957-CCATTT-C
• MyVariant Identifiers: chr11:g.61732430_61732434del (hg19) ; chr11:g.61964958_61964962del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964958_61964962del , CM000673.2:g.61964958_61964962del	GRCh38
NC_000011.9:g.61732430_61732434del , CM000673.1:g.61732430_61732434del	GRCh37
NC_000011.8:g.61489006_61489010del	NCBI36
NG_008346.1:g.7699_7703del
NG_009033.1:g.20075_20079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.387+25_387+29del (FTH1)	ENSP00000484477.1:n.387+25_387+29del
ENST00000273550.12:c.387+25_387+29del (FTH1) MANE Select	ENSP00000273550.7:n.387+25_387+29del
ENST00000273550.11:c.387+25_387+29del (FTH1)	ENSP00000273550.7:n.387+25_387+29del
ENST00000449131.6:c.*1809_*1813del (BEST1)	ENSP00000399709.2:n.*1809_*1813del
ENST00000526640.5:c.297+25_297+29del (FTH1)	ENSP00000433321.1:n.297+25_297+29del
ENST00000529191.5:c.114+2350_114+2354del (FTH1)	ENSP00000431659.1:n.114+2350_114+2354del
ENST00000529631.5:c.114+2350_114+2354del (FTH1)	ENSP00000431575.1:n.114+2350_114+2354del
ENST00000530019.5:c.261+407_261+411del (FTH1)	ENSP00000433470.1:n.261+407_261+411del
ENST00000532601.1:c.177+25_177+29del (FTH1)	ENSP00000435111.1:n.177+25_177+29del
ENST00000532829.5:c.*92+25_*92+29del (FTH1)	ENSP00000432223.1:n.*92+25_*92+29del
ENST00000533138.1:n.831+25_831+29del (FTH1)
ENST00000534180.1:c.*296+25_*296+29del (FTH1)	ENSP00000434403.1:n.*296+25_*296+29del
ENST00000534719.1:n.573_577del (FTH1)
ENST00000620041.4:c.387+25_387+29del (FTH1)	ENSP00000484477.1:n.387+25_387+29del
NM_002032.2:c.387+25_387+29del (FTH1)	NP_002023.2:n.387+25_387+29del
NM_002032.3:c.387+25_387+29del (FTH1) MANE Select	NP_002023.2:n.387+25_387+29del
NM_001139443.2:c.*1809_*1813del (BEST1)	NP_001132915.1:n.*1809_*1813del
NM_001363591.2:c.*1809_*1813del (BEST1)	NP_001350520.1:n.*1809_*1813del
NM_001363593.2:c.*1809_*1813del (BEST1)	NP_001350522.1:n.*1809_*1813del