Canonical Allele Identifier: CA2792335614

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958380_61958399del , CM000673.2:g.61958380_61958399del	GRCh38
NC_000011.9:g.61725852_61725871del , CM000673.1:g.61725852_61725871del	GRCh37
NC_000011.8:g.61482428_61482447del	NCBI36
NG_009033.1:g.13497_13516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+82_867+101del MANE Select	ENSP00000367282.4:n.867+82_867+101del
ENST00000378043.8:c.867+82_867+101del	ENSP00000367282.4:n.867+82_867+101del
ENST00000449131.6:c.687+82_687+101del	ENSP00000399709.2:n.687+82_687+101del
ENST00000524877.5:n.1381_1400del
ENST00000524926.5:c.949_968del	ENSP00000432681.1:p.Cys317ThrfsTer21
ENST00000526988.1:c.631_650del	ENSP00000433195.1:p.Cys211ThrfsTer21
ENST00000529265.5:n.872_891del
ENST00000534553.5:c.163+2429_163+2448del	ENSP00000431189.1:n.163+2429_163+2448del
NM_001139443.1:c.687+82_687+101del	NP_001132915.1:n.687+82_687+101del
NM_001300786.1:c.687+82_687+101del	NP_001287715.1:n.687+82_687+101del
NM_001300787.1:c.687+82_687+101del	NP_001287716.1:n.687+82_687+101del
NM_004183.3:c.867+82_867+101del	NP_004174.1:n.867+82_867+101del
XM_005274210.2:c.867+82_867+101del	XP_005274267.1:n.867+82_867+101del
XM_005274215.2:c.549+82_549+101del	XP_005274272.1:n.549+82_549+101del
XM_005274216.2:c.769_788del	XP_005274273.1:p.Cys257ThrfsTer21
XM_005274218.3:c.631_650del	XP_005274275.1:p.Cys211ThrfsTer21
XM_005274219.2:c.867+82_867+101del	XP_005274276.1:n.867+82_867+101del
XM_005274221.2:c.714+916_714+935del	XP_005274278.1:n.714+916_714+935del
XM_011545229.1:c.867+82_867+101del	XP_011543531.1:n.867+82_867+101del
XM_011545230.1:c.774+82_774+101del	XP_011543532.1:n.774+82_774+101del
XM_011545231.1:c.549+82_549+101del	XP_011543533.1:n.549+82_549+101del
XM_011545232.1:c.949_968del	XP_011543534.1:p.Cys317ThrfsTer21
NM_001363591.1:c.549+82_549+101del	NP_001350520.1:n.549+82_549+101del
NM_001363592.1:c.949_968del	NP_001350521.1:p.Cys317ThrfsTer21
NM_001363593.1:c.-227_-208del	NP_001350522.1:n.-227_-208del
NR_134580.1:n.1529_1548del
XM_005274210.4:c.867+82_867+101del	XP_005274267.1:n.867+82_867+101del
XM_005274215.4:c.549+82_549+101del	XP_005274272.1:n.549+82_549+101del
XM_005274216.4:c.769_788del	XP_005274273.1:p.Cys257ThrfsTer21
XM_005274219.4:c.867+82_867+101del	XP_005274276.1:n.867+82_867+101del
XM_005274221.4:c.714+916_714+935del	XP_005274278.1:n.714+916_714+935del
XM_011545229.3:c.867+82_867+101del	XP_011543531.1:n.867+82_867+101del
XM_011545230.3:c.774+82_774+101del	XP_011543532.1:n.774+82_774+101del
XM_017018230.2:c.631_650del	XP_016873719.1:p.Cys211ThrfsTer21
XR_001747952.2:n.1447_1466del
XR_001747953.2:n.1557+82_1557+101del
XR_001747954.2:n.1404+916_1404+935del
XR_001748245.1:n.330_349del
XR_002957249.1:n.330_349del
NM_004183.4:c.867+82_867+101del MANE Select	NP_004174.1:n.867+82_867+101del
NM_001139443.2:c.687+82_687+101del	NP_001132915.1:n.687+82_687+101del
NM_001300786.2:c.687+82_687+101del	NP_001287715.1:n.687+82_687+101del
NM_001300787.2:c.687+82_687+101del	NP_001287716.1:n.687+82_687+101del
NM_001363591.2:c.549+82_549+101del	NP_001350520.1:n.549+82_549+101del
NM_001363593.2:c.-227_-208del	NP_001350522.1:n.-227_-208del
NR_134580.2:n.1062_1081del