Canonical Allele Identifier: CA6040970

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs762072466
• ExAC: 11:61727447 GC / G
• gnomAD v2: 11-61727447-GC-G
• gnomAD v4: 11-61959975-GC-G
• MyVariant Identifiers: chr11:g.61727448del (hg19) ; chr11:g.61959976del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959981del , CM000673.2:g.61959981del	GRCh38
NC_000011.9:g.61727453del , CM000673.1:g.61727453del	GRCh37
NC_000011.8:g.61484029del	NCBI36
NG_009033.1:g.15098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1038del (BEST1) MANE Select	ENSP00000367282.4:p.Tyr347ThrfsTer22
ENST00000378043.8:c.1038del (BEST1)	ENSP00000367282.4:p.Tyr347ThrfsTer22
ENST00000449131.6:c.858del (BEST1)	ENSP00000399709.2:p.Tyr287ThrfsTer22
ENST00000524877.5:n.2669del (BEST1)
ENST00000524926.5:c.1241del (BEST1)	ENSP00000432681.1:p.Pro414LeufsTer?
ENST00000526988.1:c.923del (BEST1)	ENSP00000433195.1:p.Pro308LeufsTer?
ENST00000529191.5:c.115-49del (FTH1)	ENSP00000431659.1:n.115-49del
ENST00000529631.5:c.115-72del (FTH1)	ENSP00000431575.1:n.115-72del
ENST00000530019.5:c.262-72del (FTH1)	ENSP00000433470.1:n.262-72del
ENST00000534553.5:c.164-2274del (BEST1)	ENSP00000431189.1:n.164-2274del
NM_001139443.1:c.858del (BEST1)	NP_001132915.1:p.Tyr287ThrfsTer22
NM_001300786.1:c.777del (BEST1)	NP_001287715.1:p.Tyr260ThrfsTer22
NM_001300787.1:c.858del (BEST1)	NP_001287716.1:p.Tyr287ThrfsTer22
NM_004183.3:c.1038del (BEST1)	NP_004174.1:p.Tyr347ThrfsTer22
XM_005274210.2:c.1038del (BEST1)	XP_005274267.1:p.Tyr347ThrfsTer22
XM_005274215.2:c.720del (BEST1)	XP_005274272.1:p.Tyr241ThrfsTer22
XM_005274216.2:c.1061del (BEST1)	XP_005274273.1:p.Pro354LeufsTer?
XM_005274218.3:c.923del (BEST1)	XP_005274275.1:p.Pro308LeufsTer?
XM_005274219.2:c.867+1683del (BEST1)	XP_005274276.1:n.867+1683del
XM_005274221.2:c.715-2274del (BEST1)	XP_005274278.1:n.715-2274del
XM_011545229.1:c.1038del (BEST1)	XP_011543531.1:p.Tyr347ThrfsTer22
XM_011545230.1:c.945del (BEST1)	XP_011543532.1:p.Tyr316ThrfsTer22
XM_011545231.1:c.720del (BEST1)	XP_011543533.1:p.Tyr241ThrfsTer22
XM_011545232.1:c.1241del (BEST1)	XP_011543534.1:p.Pro414LeufsTer?
XM_011545233.1:c.195del (BEST1)	XP_011543535.1:p.Tyr66ThrfsTer22
NM_001363591.1:c.720del (BEST1)	NP_001350520.1:p.Tyr241ThrfsTer22
NM_001363592.1:c.1241del (BEST1)	NP_001350521.1:p.Pro414LeufsTer?
NM_001363593.1:c.66del (BEST1)	NP_001350522.1:p.Tyr23ThrfsTer22
NR_134580.1:n.1821del (BEST1)
XM_005274210.4:c.1038del (BEST1)	XP_005274267.1:p.Tyr347ThrfsTer22
XM_005274215.4:c.720del (BEST1)	XP_005274272.1:p.Tyr241ThrfsTer22
XM_005274216.4:c.1061del (BEST1)	XP_005274273.1:p.Pro354LeufsTer?
XM_005274219.4:c.867+1683del (BEST1)	XP_005274276.1:n.867+1683del
XM_005274221.4:c.715-2274del (BEST1)	XP_005274278.1:n.715-2274del
XM_011545229.3:c.1038del (BEST1)	XP_011543531.1:p.Tyr347ThrfsTer22
XM_011545230.3:c.945del (BEST1)	XP_011543532.1:p.Tyr316ThrfsTer22
XM_011545233.3:c.195del (BEST1)	XP_011543535.1:p.Tyr66ThrfsTer22
XM_017018230.2:c.923del (BEST1)	XP_016873719.1:p.Pro308LeufsTer?
XR_001747952.2:n.1739del (BEST1)
XR_001747953.2:n.1557+1683del (BEST1)
XR_001747954.2:n.1405-2274del (BEST1)
NM_004183.4:c.1038del (BEST1) MANE Select	NP_004174.1:p.Tyr347ThrfsTer22
NM_001139443.2:c.858del (BEST1)	NP_001132915.1:p.Tyr287ThrfsTer22
NM_001300786.2:c.777del (BEST1)	NP_001287715.1:p.Tyr260ThrfsTer22
NM_001300787.2:c.858del (BEST1)	NP_001287716.1:p.Tyr287ThrfsTer22
NM_001363591.2:c.720del (BEST1)	NP_001350520.1:p.Tyr241ThrfsTer22
NM_001363593.2:c.66del (BEST1)	NP_001350522.1:p.Tyr23ThrfsTer22
NR_134580.2:n.1354del (BEST1)