Canonical Allele Identifier: CA599525682

Gene: BEST1 FTH1

Linked Data

• gnomAD v2: 11-61727447-G-GC
• gnomAD v4: 11-61959975-G-GC
• COSMIC: COSM5831798 ; COSM5831799
• MyVariant Identifiers: chr11:g.61727448_61727449insC (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1038dup (BEST1) MANE Select	ENSP00000367282.4:p.Tyr347LeufsTer?
ENST00000378043.8:c.1038dup (BEST1)	ENSP00000367282.4:p.Tyr347LeufsTer?
ENST00000449131.6:c.858dup (BEST1)	ENSP00000399709.2:p.Tyr287LeufsTer?
ENST00000524877.5:n.2669dup (BEST1)
ENST00000524926.5:c.1241dup (BEST1)	ENSP00000432681.1:p.Thr415TyrfsTer?
ENST00000526988.1:c.923dup (BEST1)	ENSP00000433195.1:p.Thr309TyrfsTer?
ENST00000529191.5:c.115-49dup (FTH1)	ENSP00000431659.1:n.115-49dup
ENST00000529631.5:c.115-72dup (FTH1)	ENSP00000431575.1:n.115-72dup
ENST00000530019.5:c.262-72dup (FTH1)	ENSP00000433470.1:n.262-72dup
ENST00000534553.5:c.164-2274dup (BEST1)	ENSP00000431189.1:n.164-2274dup
NM_001139443.1:c.858dup (BEST1)	NP_001132915.1:p.Tyr287LeufsTer?
NM_001300786.1:c.777dup (BEST1)	NP_001287715.1:p.Tyr260LeufsTer?
NM_001300787.1:c.858dup (BEST1)	NP_001287716.1:p.Tyr287LeufsTer?
NM_004183.3:c.1038dup (BEST1)	NP_004174.1:p.Tyr347LeufsTer?
XM_005274210.2:c.1038dup (BEST1)	XP_005274267.1:p.Tyr347LeufsTer?
XM_005274215.2:c.720dup (BEST1)	XP_005274272.1:p.Tyr241LeufsTer?
XM_005274216.2:c.1061dup (BEST1)	XP_005274273.1:p.Thr355TyrfsTer?
XM_005274218.3:c.923dup (BEST1)	XP_005274275.1:p.Thr309TyrfsTer?
XM_005274219.2:c.867+1683dup (BEST1)	XP_005274276.1:n.867+1683dup
XM_005274221.2:c.715-2274dup (BEST1)	XP_005274278.1:n.715-2274dup
XM_011545229.1:c.1038dup (BEST1)	XP_011543531.1:p.Tyr347LeufsTer?
XM_011545230.1:c.945dup (BEST1)	XP_011543532.1:p.Tyr316LeufsTer?
XM_011545231.1:c.720dup (BEST1)	XP_011543533.1:p.Tyr241LeufsTer?
XM_011545232.1:c.1241dup (BEST1)	XP_011543534.1:p.Thr415TyrfsTer?
XM_011545233.1:c.195dup (BEST1)	XP_011543535.1:p.Tyr66LeufsTer?
NM_001363591.1:c.720dup (BEST1)	NP_001350520.1:p.Tyr241LeufsTer?
NM_001363592.1:c.1241dup (BEST1)	NP_001350521.1:p.Thr415TyrfsTer?
NM_001363593.1:c.66dup (BEST1)	NP_001350522.1:p.Tyr23LeufsTer?
NR_134580.1:n.1821dup (BEST1)
XM_005274210.4:c.1038dup (BEST1)	XP_005274267.1:p.Tyr347LeufsTer?
XM_005274215.4:c.720dup (BEST1)	XP_005274272.1:p.Tyr241LeufsTer?
XM_005274216.4:c.1061dup (BEST1)	XP_005274273.1:p.Thr355TyrfsTer?
XM_005274219.4:c.867+1683dup (BEST1)	XP_005274276.1:n.867+1683dup
XM_005274221.4:c.715-2274dup (BEST1)	XP_005274278.1:n.715-2274dup
XM_011545229.3:c.1038dup (BEST1)	XP_011543531.1:p.Tyr347LeufsTer?
XM_011545230.3:c.945dup (BEST1)	XP_011543532.1:p.Tyr316LeufsTer?
XM_011545233.3:c.195dup (BEST1)	XP_011543535.1:p.Tyr66LeufsTer?
XM_017018230.2:c.923dup (BEST1)	XP_016873719.1:p.Thr309TyrfsTer?
XR_001747952.2:n.1739dup (BEST1)
XR_001747953.2:n.1557+1683dup (BEST1)
XR_001747954.2:n.1405-2274dup (BEST1)
NM_004183.4:c.1038dup (BEST1) MANE Select	NP_004174.1:p.Tyr347LeufsTer?
NM_001139443.2:c.858dup (BEST1)	NP_001132915.1:p.Tyr287LeufsTer?
NM_001300786.2:c.777dup (BEST1)	NP_001287715.1:p.Tyr260LeufsTer?
NM_001300787.2:c.858dup (BEST1)	NP_001287716.1:p.Tyr287LeufsTer?
NM_001363591.2:c.720dup (BEST1)	NP_001350520.1:p.Tyr241LeufsTer?
NM_001363593.2:c.66dup (BEST1)	NP_001350522.1:p.Tyr23LeufsTer?
NR_134580.2:n.1354dup (BEST1)