Canonical Allele Identifier: CA2740093050

Gene: BEST1

Linked Data

• ClinVar Variation Id: 3028214
• ClinVar RCV Id: RCV003889584

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959566_61959570dup , CM000673.2:g.61959566_61959570dup	GRCh38
NC_000011.9:g.61727038_61727042dup , CM000673.1:g.61727038_61727042dup	GRCh37
NC_000011.8:g.61483614_61483618dup	NCBI36
NG_009033.1:g.14683_14687dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.936_940dup MANE Select	ENSP00000367282.4:p.Asn314ThrfsTer?
ENST00000378043.8:c.936_940dup	ENSP00000367282.4:p.Asn314ThrfsTer?
ENST00000449131.6:c.756_760dup	ENSP00000399709.2:p.Asn254ThrfsTer?
ENST00000524877.5:n.2567_2571dup
ENST00000524926.5:c.1139_1143dup	ENSP00000432681.1:p.Ile382GlnfsTer12
ENST00000526988.1:c.821_825dup	ENSP00000433195.1:p.Ile276GlnfsTer12
ENST00000534553.5:c.164-2689_164-2685dup	ENSP00000431189.1:n.164-2689_164-2685dup
NM_001139443.1:c.756_760dup	NP_001132915.1:p.Asn254ThrfsTer?
NM_001300786.1:c.688-326_688-322dup	NP_001287715.1:n.688-326_688-322dup
NM_001300787.1:c.756_760dup	NP_001287716.1:p.Asn254ThrfsTer?
NM_004183.3:c.936_940dup	NP_004174.1:p.Asn314ThrfsTer?
XM_005274210.2:c.936_940dup	XP_005274267.1:p.Asn314ThrfsTer?
XM_005274215.2:c.618_622dup	XP_005274272.1:p.Asn208ThrfsTer?
XM_005274216.2:c.959_963dup	XP_005274273.1:p.Ile322GlnfsTer12
XM_005274218.3:c.821_825dup	XP_005274275.1:p.Ile276GlnfsTer12
XM_005274219.2:c.867+1268_867+1272dup	XP_005274276.1:n.867+1268_867+1272dup
XM_005274221.2:c.714+2102_714+2106dup	XP_005274278.1:n.714+2102_714+2106dup
XM_011545229.1:c.936_940dup	XP_011543531.1:p.Asn314ThrfsTer?
XM_011545230.1:c.843_847dup	XP_011543532.1:p.Asn283ThrfsTer?
XM_011545231.1:c.618_622dup	XP_011543533.1:p.Asn208ThrfsTer?
XM_011545232.1:c.1139_1143dup	XP_011543534.1:p.Ile382GlnfsTer12
XM_011545233.1:c.93_97dup	XP_011543535.1:p.Asn33ThrfsTer?
NM_001363591.1:c.618_622dup	NP_001350520.1:p.Asn208ThrfsTer?
NM_001363592.1:c.1139_1143dup	NP_001350521.1:p.Ile382GlnfsTer12
NM_001363593.1:c.-37_-33dup	NP_001350522.1:n.-37_-33dup
NR_134580.1:n.1719_1723dup
XM_005274210.4:c.936_940dup	XP_005274267.1:p.Asn314ThrfsTer?
XM_005274215.4:c.618_622dup	XP_005274272.1:p.Asn208ThrfsTer?
XM_005274216.4:c.959_963dup	XP_005274273.1:p.Ile322GlnfsTer12
XM_005274219.4:c.867+1268_867+1272dup	XP_005274276.1:n.867+1268_867+1272dup
XM_005274221.4:c.714+2102_714+2106dup	XP_005274278.1:n.714+2102_714+2106dup
XM_011545229.3:c.936_940dup	XP_011543531.1:p.Asn314ThrfsTer?
XM_011545230.3:c.843_847dup	XP_011543532.1:p.Asn283ThrfsTer?
XM_011545233.3:c.93_97dup	XP_011543535.1:p.Asn33ThrfsTer?
XM_017018230.2:c.821_825dup	XP_016873719.1:p.Ile276GlnfsTer12
XR_001747952.2:n.1637_1641dup
XR_001747953.2:n.1557+1268_1557+1272dup
XR_001747954.2:n.1404+2102_1404+2106dup
XR_001748245.1:n.196+164_196+168dup
XR_002957249.1:n.196+164_196+168dup
NM_004183.4:c.936_940dup MANE Select	NP_004174.1:p.Asn314ThrfsTer?
NM_001139443.2:c.756_760dup	NP_001132915.1:p.Asn254ThrfsTer?
NM_001300786.2:c.688-326_688-322dup	NP_001287715.1:n.688-326_688-322dup
NM_001300787.2:c.756_760dup	NP_001287716.1:p.Asn254ThrfsTer?
NM_001363591.2:c.618_622dup	NP_001350520.1:p.Asn208ThrfsTer?
NM_001363593.2:c.-37_-33dup	NP_001350522.1:n.-37_-33dup
NR_134580.2:n.1252_1256dup