Canonical Allele Identifier: CA2695214605

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959922del , CM000673.2:g.61959922del	GRCh38
NC_000011.9:g.61727394del , CM000673.1:g.61727394del	GRCh37
NC_000011.8:g.61483970del	NCBI36
NG_009033.1:g.15039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.979del (BEST1) MANE Select	ENSP00000367282.4:p.Gln327ArgfsTer?
ENST00000378043.8:c.979del (BEST1)	ENSP00000367282.4:p.Gln327ArgfsTer?
ENST00000449131.6:c.799del (BEST1)	ENSP00000399709.2:p.Gln267ArgfsTer?
ENST00000524877.5:n.2610del (BEST1)
ENST00000524926.5:c.1182del (BEST1)	ENSP00000432681.1:p.Arg395GlyfsTer13
ENST00000526988.1:c.864del (BEST1)	ENSP00000433195.1:p.Arg289GlyfsTer13
ENST00000529191.5:c.121del (FTH1)	ENSP00000431659.1:p.Val41CysfsTer?
ENST00000529631.5:c.115-17del (FTH1)	ENSP00000431575.1:n.115-17del
ENST00000530019.5:c.262-17del (FTH1)	ENSP00000433470.1:n.262-17del
ENST00000534553.5:c.164-2333del (BEST1)	ENSP00000431189.1:n.164-2333del
NM_001139443.1:c.799del (BEST1)	NP_001132915.1:p.Gln267ArgfsTer?
NM_001300786.1:c.718del (BEST1)	NP_001287715.1:p.Gln240ArgfsTer?
NM_001300787.1:c.799del (BEST1)	NP_001287716.1:p.Gln267ArgfsTer?
NM_004183.3:c.979del (BEST1)	NP_004174.1:p.Gln327ArgfsTer?
XM_005274210.2:c.979del (BEST1)	XP_005274267.1:p.Gln327ArgfsTer?
XM_005274215.2:c.661del (BEST1)	XP_005274272.1:p.Gln221ArgfsTer?
XM_005274216.2:c.1002del (BEST1)	XP_005274273.1:p.Arg335GlyfsTer13
XM_005274218.3:c.864del (BEST1)	XP_005274275.1:p.Arg289GlyfsTer13
XM_005274219.2:c.867+1624del (BEST1)	XP_005274276.1:n.867+1624del
XM_005274221.2:c.715-2333del (BEST1)	XP_005274278.1:n.715-2333del
XM_011545229.1:c.979del (BEST1)	XP_011543531.1:p.Gln327ArgfsTer?
XM_011545230.1:c.886del (BEST1)	XP_011543532.1:p.Gln296ArgfsTer?
XM_011545231.1:c.661del (BEST1)	XP_011543533.1:p.Gln221ArgfsTer?
XM_011545232.1:c.1182del (BEST1)	XP_011543534.1:p.Arg395GlyfsTer13
XM_011545233.1:c.136del (BEST1)	XP_011543535.1:p.Gln46ArgfsTer?
NM_001363591.1:c.661del (BEST1)	NP_001350520.1:p.Gln221ArgfsTer?
NM_001363592.1:c.1182del (BEST1)	NP_001350521.1:p.Arg395GlyfsTer13
NM_001363593.1:c.7del (BEST1)	NP_001350522.1:p.Gln3ArgfsTer?
NR_134580.1:n.1762del (BEST1)
XM_005274210.4:c.979del (BEST1)	XP_005274267.1:p.Gln327ArgfsTer?
XM_005274215.4:c.661del (BEST1)	XP_005274272.1:p.Gln221ArgfsTer?
XM_005274216.4:c.1002del (BEST1)	XP_005274273.1:p.Arg335GlyfsTer13
XM_005274219.4:c.867+1624del (BEST1)	XP_005274276.1:n.867+1624del
XM_005274221.4:c.715-2333del (BEST1)	XP_005274278.1:n.715-2333del
XM_011545229.3:c.979del (BEST1)	XP_011543531.1:p.Gln327ArgfsTer?
XM_011545230.3:c.886del (BEST1)	XP_011543532.1:p.Gln296ArgfsTer?
XM_011545233.3:c.136del (BEST1)	XP_011543535.1:p.Gln46ArgfsTer?
XM_017018230.2:c.864del (BEST1)	XP_016873719.1:p.Arg289GlyfsTer13
XR_001747952.2:n.1680del (BEST1)
XR_001747953.2:n.1557+1624del (BEST1)
XR_001747954.2:n.1405-2333del (BEST1)
XR_001748245.1:n.7del
XR_002957249.1:n.7del
NM_004183.4:c.979del (BEST1) MANE Select	NP_004174.1:p.Gln327ArgfsTer?
NM_001139443.2:c.799del (BEST1)	NP_001132915.1:p.Gln267ArgfsTer?
NM_001300786.2:c.718del (BEST1)	NP_001287715.1:p.Gln240ArgfsTer?
NM_001300787.2:c.799del (BEST1)	NP_001287716.1:p.Gln267ArgfsTer?
NM_001363591.2:c.661del (BEST1)	NP_001350520.1:p.Gln221ArgfsTer?
NM_001363593.2:c.7del (BEST1)	NP_001350522.1:p.Gln3ArgfsTer?
NR_134580.2:n.1295del (BEST1)