Canonical Allele Identifier: CA1977538895

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942385781
• gnomAD v4: 11-61964431-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964433_61964435del , CM000673.2:g.61964433_61964435del	GRCh38
NC_000011.9:g.61731905_61731907del , CM000673.1:g.61731905_61731907del	GRCh37
NC_000011.8:g.61488481_61488483del	NCBI36
NG_008346.1:g.8227_8229del
NG_009033.1:g.19550_19552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*293_*295del (FTH1) MANE Select	ENSP00000273550.7:n.*293_*295del
ENST00000378043.9:c.*311_*313del (BEST1) MANE Select	ENSP00000367282.4:n.*311_*313del
ENST00000273550.11:c.*293_*295del (FTH1)	ENSP00000273550.7:n.*293_*295del
ENST00000378043.8:c.*311_*313del (BEST1)	ENSP00000367282.4:n.*311_*313del
ENST00000449131.6:c.*1284_*1286del (BEST1)	ENSP00000399709.2:n.*1284_*1286del
ENST00000524926.5:c.*964_*966del (BEST1)	ENSP00000432681.1:n.*964_*966del
ENST00000529191.5:c.114+2878_114+2880del (FTH1)	ENSP00000431659.1:n.114+2878_114+2880del
ENST00000529631.5:c.114+2878_114+2880del (FTH1)	ENSP00000431575.1:n.114+2878_114+2880del
ENST00000530019.5:c.261+935_261+937del (FTH1)	ENSP00000433470.1:n.261+935_261+937del
NM_001300786.1:c.*311_*313del (BEST1)	NP_001287715.1:n.*311_*313del
NM_001300787.1:c.*311_*313del (BEST1)	NP_001287716.1:n.*311_*313del
NM_002032.2:c.*293_*295del (FTH1)	NP_002023.2:n.*293_*295del
NM_004183.3:c.*311_*313del (BEST1)	NP_004174.1:n.*311_*313del
XM_005274210.2:c.*1284_*1286del (BEST1)	XP_005274267.1:n.*1284_*1286del
XM_005274215.2:c.*311_*313del (BEST1)	XP_005274272.1:n.*311_*313del
XM_011545229.1:c.*1284_*1286del (BEST1)	XP_011543531.1:n.*1284_*1286del
XM_011545230.1:c.*1284_*1286del (BEST1)	XP_011543532.1:n.*1284_*1286del
XM_011545231.1:c.*1284_*1286del (BEST1)	XP_011543533.1:n.*1284_*1286del
XM_011545233.1:c.*1284_*1286del (BEST1)	XP_011543535.1:n.*1284_*1286del
NM_001363591.1:c.*1284_*1286del (BEST1)	NP_001350520.1:n.*1284_*1286del
NM_001363592.1:c.*2174_*2176del (BEST1)	NP_001350521.1:n.*2174_*2176del
NM_001363593.1:c.*1284_*1286del (BEST1)	NP_001350522.1:n.*1284_*1286del
NR_134580.1:n.2852_2854del (BEST1)
XM_005274210.4:c.*1284_*1286del (BEST1)	XP_005274267.1:n.*1284_*1286del
XM_005274215.4:c.*311_*313del (BEST1)	XP_005274272.1:n.*311_*313del
XM_005274216.4:c.*2174_*2176del (BEST1)	XP_005274273.1:n.*2174_*2176del
XM_005274219.4:c.*2080_*2082del (BEST1)	XP_005274276.1:n.*2080_*2082del
XM_005274221.4:c.*2080_*2082del (BEST1)	XP_005274278.1:n.*2080_*2082del
XM_011545229.3:c.*1284_*1286del (BEST1)	XP_011543531.1:n.*1284_*1286del
XM_011545230.3:c.*1284_*1286del (BEST1)	XP_011543532.1:n.*1284_*1286del
XM_011545233.3:c.*1284_*1286del (BEST1)	XP_011543535.1:n.*1284_*1286del
XM_017018230.2:c.*2174_*2176del (BEST1)	XP_016873719.1:n.*2174_*2176del
NM_002032.3:c.*293_*295del (FTH1) MANE Select	NP_002023.2:n.*293_*295del
NM_004183.4:c.*311_*313del (BEST1) MANE Select	NP_004174.1:n.*311_*313del
NM_001139443.2:c.*1284_*1286del (BEST1)	NP_001132915.1:n.*1284_*1286del
NM_001300786.2:c.*311_*313del (BEST1)	NP_001287715.1:n.*311_*313del
NM_001300787.2:c.*311_*313del (BEST1)	NP_001287716.1:n.*311_*313del
NM_001363591.2:c.*1284_*1286del (BEST1)	NP_001350520.1:n.*1284_*1286del
NM_001363593.2:c.*1284_*1286del (BEST1)	NP_001350522.1:n.*1284_*1286del
NR_134580.2:n.2385_2387del (BEST1)