Canonical Allele Identifier: CA2613926771

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 3037061
• ClinVar RCV Id: RCV004539359
• gnomAD v4: 11-61959909-GGATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959914_61959918del , CM000673.2:g.61959914_61959918del	GRCh38
NC_000011.9:g.61727386_61727390del , CM000673.1:g.61727386_61727390del	GRCh37
NC_000011.8:g.61483962_61483966del	NCBI36
NG_009033.1:g.15031_15035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.971_975del (BEST1) MANE Select	ENSP00000367282.4:p.Glu324AlafsTer15
ENST00000378043.8:c.971_975del (BEST1)	ENSP00000367282.4:p.Glu324AlafsTer15
ENST00000449131.6:c.791_795del (BEST1)	ENSP00000399709.2:p.Glu264AlafsTer15
ENST00000524877.5:n.2602_2606del (BEST1)
ENST00000524926.5:c.1174_1178del (BEST1)	ENSP00000432681.1:p.Arg392HisfsTer?
ENST00000526988.1:c.856_860del (BEST1)	ENSP00000433195.1:p.Arg286HisfsTer?
ENST00000529191.5:c.128_132del (FTH1)	ENSP00000431659.1:p.Leu43ProfsTer?
ENST00000529631.5:c.115-10_115-6del (FTH1)	ENSP00000431575.1:n.115-10_115-6del
ENST00000530019.5:c.262-10_262-6del (FTH1)	ENSP00000433470.1:n.262-10_262-6del
ENST00000534553.5:c.164-2341_164-2337del (BEST1)	ENSP00000431189.1:n.164-2341_164-2337del
NM_001139443.1:c.791_795del (BEST1)	NP_001132915.1:p.Glu264AlafsTer15
NM_001300786.1:c.710_714del (BEST1)	NP_001287715.1:p.Glu237AlafsTer15
NM_001300787.1:c.791_795del (BEST1)	NP_001287716.1:p.Glu264AlafsTer15
NM_004183.3:c.971_975del (BEST1)	NP_004174.1:p.Glu324AlafsTer15
XM_005274210.2:c.971_975del (BEST1)	XP_005274267.1:p.Glu324AlafsTer15
XM_005274215.2:c.653_657del (BEST1)	XP_005274272.1:p.Glu218AlafsTer15
XM_005274216.2:c.994_998del (BEST1)	XP_005274273.1:p.Arg332HisfsTer?
XM_005274218.3:c.856_860del (BEST1)	XP_005274275.1:p.Arg286HisfsTer?
XM_005274219.2:c.867+1616_867+1620del (BEST1)	XP_005274276.1:n.867+1616_867+1620del
XM_005274221.2:c.715-2341_715-2337del (BEST1)	XP_005274278.1:n.715-2341_715-2337del
XM_011545229.1:c.971_975del (BEST1)	XP_011543531.1:p.Glu324AlafsTer15
XM_011545230.1:c.878_882del (BEST1)	XP_011543532.1:p.Glu293AlafsTer15
XM_011545231.1:c.653_657del (BEST1)	XP_011543533.1:p.Glu218AlafsTer15
XM_011545232.1:c.1174_1178del (BEST1)	XP_011543534.1:p.Arg392HisfsTer?
XM_011545233.1:c.128_132del (BEST1)	XP_011543535.1:p.Glu43AlafsTer15
NM_001363591.1:c.653_657del (BEST1)	NP_001350520.1:p.Glu218AlafsTer15
NM_001363592.1:c.1174_1178del (BEST1)	NP_001350521.1:p.Arg392HisfsTer?
NM_001363593.1:c.-2_3del (BEST1)	NP_001350522.1:n.-2_3del
NR_134580.1:n.1754_1758del (BEST1)
XM_005274210.4:c.971_975del (BEST1)	XP_005274267.1:p.Glu324AlafsTer15
XM_005274215.4:c.653_657del (BEST1)	XP_005274272.1:p.Glu218AlafsTer15
XM_005274216.4:c.994_998del (BEST1)	XP_005274273.1:p.Arg332HisfsTer?
XM_005274219.4:c.867+1616_867+1620del (BEST1)	XP_005274276.1:n.867+1616_867+1620del
XM_005274221.4:c.715-2341_715-2337del (BEST1)	XP_005274278.1:n.715-2341_715-2337del
XM_011545229.3:c.971_975del (BEST1)	XP_011543531.1:p.Glu324AlafsTer15
XM_011545230.3:c.878_882del (BEST1)	XP_011543532.1:p.Glu293AlafsTer15
XM_011545233.3:c.128_132del (BEST1)	XP_011543535.1:p.Glu43AlafsTer15
XM_017018230.2:c.856_860del (BEST1)	XP_016873719.1:p.Arg286HisfsTer?
XR_001747952.2:n.1672_1676del (BEST1)
XR_001747953.2:n.1557+1616_1557+1620del (BEST1)
XR_001747954.2:n.1405-2341_1405-2337del (BEST1)
XR_001748245.1:n.14_18del
XR_002957249.1:n.14_18del
NM_004183.4:c.971_975del (BEST1) MANE Select	NP_004174.1:p.Glu324AlafsTer15
NM_001139443.2:c.791_795del (BEST1)	NP_001132915.1:p.Glu264AlafsTer15
NM_001300786.2:c.710_714del (BEST1)	NP_001287715.1:p.Glu237AlafsTer15
NM_001300787.2:c.791_795del (BEST1)	NP_001287716.1:p.Glu264AlafsTer15
NM_001363591.2:c.653_657del (BEST1)	NP_001350520.1:p.Glu218AlafsTer15
NM_001363593.2:c.-2_3del (BEST1)	NP_001350522.1:n.-2_3del
NR_134580.2:n.1287_1291del (BEST1)