Canonical Allele Identifier: CA938621992

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs1941894041
• gnomAD v3: 11-61960005-CCGT-C
• gnomAD v4: 11-61960005-CCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960008_61960010del , CM000673.2:g.61960008_61960010del	GRCh38
NC_000011.9:g.61727480_61727482del , CM000673.1:g.61727480_61727482del	GRCh37
NC_000011.8:g.61484056_61484058del	NCBI36
NG_009033.1:g.15125_15127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1065_1067del (BEST1) MANE Select	ENSP00000367282.4:p.Arg356del
ENST00000378043.8:c.1065_1067del (BEST1)	ENSP00000367282.4:p.Arg356del
ENST00000449131.6:c.885_887del (BEST1)	ENSP00000399709.2:p.Arg296del
ENST00000524877.5:n.2696_2698del (BEST1)
ENST00000524926.5:c.1268_1270del (BEST1)	ENSP00000432681.1:p.Val423del
ENST00000526988.1:c.950_952del (BEST1)	ENSP00000433195.1:p.Val317del
ENST00000529191.5:c.115-81_115-79del (FTH1)	ENSP00000431659.1:n.115-81_115-79del
ENST00000529631.5:c.115-104_115-102del (FTH1)	ENSP00000431575.1:n.115-104_115-102del
ENST00000530019.5:c.262-104_262-102del (FTH1)	ENSP00000433470.1:n.262-104_262-102del
ENST00000534553.5:c.164-2247_164-2245del (BEST1)	ENSP00000431189.1:n.164-2247_164-2245del
NM_001139443.1:c.885_887del (BEST1)	NP_001132915.1:p.Arg296del
NM_001300786.1:c.804_806del (BEST1)	NP_001287715.1:p.Arg269del
NM_001300787.1:c.885_887del (BEST1)	NP_001287716.1:p.Arg296del
NM_004183.3:c.1065_1067del (BEST1)	NP_004174.1:p.Arg356del
XM_005274210.2:c.1065_1067del (BEST1)	XP_005274267.1:p.Arg356del
XM_005274215.2:c.747_749del (BEST1)	XP_005274272.1:p.Arg250del
XM_005274216.2:c.1088_1090del (BEST1)	XP_005274273.1:p.Val363del
XM_005274218.3:c.950_952del (BEST1)	XP_005274275.1:p.Val317del
XM_005274219.2:c.867+1710_867+1712del (BEST1)	XP_005274276.1:n.867+1710_867+1712del
XM_005274221.2:c.715-2247_715-2245del (BEST1)	XP_005274278.1:n.715-2247_715-2245del
XM_011545229.1:c.1065_1067del (BEST1)	XP_011543531.1:p.Arg356del
XM_011545230.1:c.972_974del (BEST1)	XP_011543532.1:p.Arg325del
XM_011545231.1:c.747_749del (BEST1)	XP_011543533.1:p.Arg250del
XM_011545232.1:c.1268_1270del (BEST1)	XP_011543534.1:p.Val423del
XM_011545233.1:c.222_224del (BEST1)	XP_011543535.1:p.Arg75del
NM_001363591.1:c.747_749del (BEST1)	NP_001350520.1:p.Arg250del
NM_001363592.1:c.1268_1270del (BEST1)	NP_001350521.1:p.Val423del
NM_001363593.1:c.93_95del (BEST1)	NP_001350522.1:p.Arg32del
NR_134580.1:n.1848_1850del (BEST1)
XM_005274210.4:c.1065_1067del (BEST1)	XP_005274267.1:p.Arg356del
XM_005274215.4:c.747_749del (BEST1)	XP_005274272.1:p.Arg250del
XM_005274216.4:c.1088_1090del (BEST1)	XP_005274273.1:p.Val363del
XM_005274219.4:c.867+1710_867+1712del (BEST1)	XP_005274276.1:n.867+1710_867+1712del
XM_005274221.4:c.715-2247_715-2245del (BEST1)	XP_005274278.1:n.715-2247_715-2245del
XM_011545229.3:c.1065_1067del (BEST1)	XP_011543531.1:p.Arg356del
XM_011545230.3:c.972_974del (BEST1)	XP_011543532.1:p.Arg325del
XM_011545233.3:c.222_224del (BEST1)	XP_011543535.1:p.Arg75del
XM_017018230.2:c.950_952del (BEST1)	XP_016873719.1:p.Val317del
XR_001747952.2:n.1766_1768del (BEST1)
XR_001747953.2:n.1557+1710_1557+1712del (BEST1)
XR_001747954.2:n.1405-2247_1405-2245del (BEST1)
NM_004183.4:c.1065_1067del (BEST1) MANE Select	NP_004174.1:p.Arg356del
NM_001139443.2:c.885_887del (BEST1)	NP_001132915.1:p.Arg296del
NM_001300786.2:c.804_806del (BEST1)	NP_001287715.1:p.Arg269del
NM_001300787.2:c.885_887del (BEST1)	NP_001287716.1:p.Arg296del
NM_001363591.2:c.747_749del (BEST1)	NP_001350520.1:p.Arg250del
NM_001363593.2:c.93_95del (BEST1)	NP_001350522.1:p.Arg32del
NR_134580.2:n.1381_1383del (BEST1)