Canonical Allele Identifier: CA2792335589

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958335_61958336del , CM000673.2:g.61958335_61958336del	GRCh38
NC_000011.9:g.61725807_61725808del , CM000673.1:g.61725807_61725808del	GRCh37
NC_000011.8:g.61482383_61482384del	NCBI36
NG_009033.1:g.13452_13453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+37_867+38del MANE Select	ENSP00000367282.4:n.867+37_867+38del
ENST00000378043.8:c.867+37_867+38del	ENSP00000367282.4:n.867+37_867+38del
ENST00000449131.6:c.687+37_687+38del	ENSP00000399709.2:n.687+37_687+38del
ENST00000524877.5:n.1336_1337del
ENST00000524926.5:c.904_905del	ENSP00000432681.1:p.Gly302ProfsTer10
ENST00000526988.1:c.586_587del	ENSP00000433195.1:p.Gly196ProfsTer10
ENST00000529265.5:n.827_828del
ENST00000534553.5:c.163+2384_163+2385del	ENSP00000431189.1:n.163+2384_163+2385del
NM_001139443.1:c.687+37_687+38del	NP_001132915.1:n.687+37_687+38del
NM_001300786.1:c.687+37_687+38del	NP_001287715.1:n.687+37_687+38del
NM_001300787.1:c.687+37_687+38del	NP_001287716.1:n.687+37_687+38del
NM_004183.3:c.867+37_867+38del	NP_004174.1:n.867+37_867+38del
XM_005274210.2:c.867+37_867+38del	XP_005274267.1:n.867+37_867+38del
XM_005274215.2:c.549+37_549+38del	XP_005274272.1:n.549+37_549+38del
XM_005274216.2:c.724_725del	XP_005274273.1:p.Gly242ProfsTer10
XM_005274218.3:c.586_587del	XP_005274275.1:p.Gly196ProfsTer10
XM_005274219.2:c.867+37_867+38del	XP_005274276.1:n.867+37_867+38del
XM_005274221.2:c.714+871_714+872del	XP_005274278.1:n.714+871_714+872del
XM_011545229.1:c.867+37_867+38del	XP_011543531.1:n.867+37_867+38del
XM_011545230.1:c.774+37_774+38del	XP_011543532.1:n.774+37_774+38del
XM_011545231.1:c.549+37_549+38del	XP_011543533.1:n.549+37_549+38del
XM_011545232.1:c.904_905del	XP_011543534.1:p.Gly302ProfsTer10
NM_001363591.1:c.549+37_549+38del	NP_001350520.1:n.549+37_549+38del
NM_001363592.1:c.904_905del	NP_001350521.1:p.Gly302ProfsTer10
NM_001363593.1:c.-272_-271del	NP_001350522.1:n.-272_-271del
NR_134580.1:n.1484_1485del
XM_005274210.4:c.867+37_867+38del	XP_005274267.1:n.867+37_867+38del
XM_005274215.4:c.549+37_549+38del	XP_005274272.1:n.549+37_549+38del
XM_005274216.4:c.724_725del	XP_005274273.1:p.Gly242ProfsTer10
XM_005274219.4:c.867+37_867+38del	XP_005274276.1:n.867+37_867+38del
XM_005274221.4:c.714+871_714+872del	XP_005274278.1:n.714+871_714+872del
XM_011545229.3:c.867+37_867+38del	XP_011543531.1:n.867+37_867+38del
XM_011545230.3:c.774+37_774+38del	XP_011543532.1:n.774+37_774+38del
XM_017018230.2:c.586_587del	XP_016873719.1:p.Gly196ProfsTer10
XR_001747952.2:n.1402_1403del
XR_001747953.2:n.1557+37_1557+38del
XR_001747954.2:n.1404+871_1404+872del
XR_001748245.1:n.393_394del
XR_002957249.1:n.393_394del
NM_004183.4:c.867+37_867+38del MANE Select	NP_004174.1:n.867+37_867+38del
NM_001139443.2:c.687+37_687+38del	NP_001132915.1:n.687+37_687+38del
NM_001300786.2:c.687+37_687+38del	NP_001287715.1:n.687+37_687+38del
NM_001300787.2:c.687+37_687+38del	NP_001287716.1:n.687+37_687+38del
NM_001363591.2:c.549+37_549+38del	NP_001350520.1:n.549+37_549+38del
NM_001363593.2:c.-272_-271del	NP_001350522.1:n.-272_-271del
NR_134580.2:n.1017_1018del