Canonical Allele Identifier: CA2792335609

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958376_61958377del , CM000673.2:g.61958376_61958377del	GRCh38
NC_000011.9:g.61725848_61725849del , CM000673.1:g.61725848_61725849del	GRCh37
NC_000011.8:g.61482424_61482425del	NCBI36
NG_009033.1:g.13493_13494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+78_867+79del MANE Select	ENSP00000367282.4:n.867+78_867+79del
ENST00000378043.8:c.867+78_867+79del	ENSP00000367282.4:n.867+78_867+79del
ENST00000449131.6:c.687+78_687+79del	ENSP00000399709.2:n.687+78_687+79del
ENST00000524877.5:n.1377_1378del
ENST00000524926.5:c.945_946del	ENSP00000432681.1:p.Met315IlefsTer29
ENST00000526988.1:c.627_628del	ENSP00000433195.1:p.Met209IlefsTer29
ENST00000529265.5:n.868_869del
ENST00000534553.5:c.163+2425_163+2426del	ENSP00000431189.1:n.163+2425_163+2426del
NM_001139443.1:c.687+78_687+79del	NP_001132915.1:n.687+78_687+79del
NM_001300786.1:c.687+78_687+79del	NP_001287715.1:n.687+78_687+79del
NM_001300787.1:c.687+78_687+79del	NP_001287716.1:n.687+78_687+79del
NM_004183.3:c.867+78_867+79del	NP_004174.1:n.867+78_867+79del
XM_005274210.2:c.867+78_867+79del	XP_005274267.1:n.867+78_867+79del
XM_005274215.2:c.549+78_549+79del	XP_005274272.1:n.549+78_549+79del
XM_005274216.2:c.765_766del	XP_005274273.1:p.Met255IlefsTer29
XM_005274218.3:c.627_628del	XP_005274275.1:p.Met209IlefsTer29
XM_005274219.2:c.867+78_867+79del	XP_005274276.1:n.867+78_867+79del
XM_005274221.2:c.714+912_714+913del	XP_005274278.1:n.714+912_714+913del
XM_011545229.1:c.867+78_867+79del	XP_011543531.1:n.867+78_867+79del
XM_011545230.1:c.774+78_774+79del	XP_011543532.1:n.774+78_774+79del
XM_011545231.1:c.549+78_549+79del	XP_011543533.1:n.549+78_549+79del
XM_011545232.1:c.945_946del	XP_011543534.1:p.Met315IlefsTer29
NM_001363591.1:c.549+78_549+79del	NP_001350520.1:n.549+78_549+79del
NM_001363592.1:c.945_946del	NP_001350521.1:p.Met315IlefsTer29
NM_001363593.1:c.-231_-230del	NP_001350522.1:n.-231_-230del
NR_134580.1:n.1525_1526del
XM_005274210.4:c.867+78_867+79del	XP_005274267.1:n.867+78_867+79del
XM_005274215.4:c.549+78_549+79del	XP_005274272.1:n.549+78_549+79del
XM_005274216.4:c.765_766del	XP_005274273.1:p.Met255IlefsTer29
XM_005274219.4:c.867+78_867+79del	XP_005274276.1:n.867+78_867+79del
XM_005274221.4:c.714+912_714+913del	XP_005274278.1:n.714+912_714+913del
XM_011545229.3:c.867+78_867+79del	XP_011543531.1:n.867+78_867+79del
XM_011545230.3:c.774+78_774+79del	XP_011543532.1:n.774+78_774+79del
XM_017018230.2:c.627_628del	XP_016873719.1:p.Met209IlefsTer29
XR_001747952.2:n.1443_1444del
XR_001747953.2:n.1557+78_1557+79del
XR_001747954.2:n.1404+912_1404+913del
XR_001748245.1:n.352_353del
XR_002957249.1:n.352_353del
NM_004183.4:c.867+78_867+79del MANE Select	NP_004174.1:n.867+78_867+79del
NM_001139443.2:c.687+78_687+79del	NP_001132915.1:n.687+78_687+79del
NM_001300786.2:c.687+78_687+79del	NP_001287715.1:n.687+78_687+79del
NM_001300787.2:c.687+78_687+79del	NP_001287716.1:n.687+78_687+79del
NM_001363591.2:c.549+78_549+79del	NP_001350520.1:n.549+78_549+79del
NM_001363593.2:c.-231_-230del	NP_001350522.1:n.-231_-230del
NR_134580.2:n.1058_1059del