Canonical Allele Identifier: CA2792335604

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958372_61958376del , CM000673.2:g.61958372_61958376del	GRCh38
NC_000011.9:g.61725844_61725848del , CM000673.1:g.61725844_61725848del	GRCh37
NC_000011.8:g.61482420_61482424del	NCBI36
NG_009033.1:g.13489_13493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+74_867+78del MANE Select	ENSP00000367282.4:n.867+74_867+78del
ENST00000378043.8:c.867+74_867+78del	ENSP00000367282.4:n.867+74_867+78del
ENST00000449131.6:c.687+74_687+78del	ENSP00000399709.2:n.687+74_687+78del
ENST00000524877.5:n.1373_1377del
ENST00000524926.5:c.941_945del	ENSP00000432681.1:p.Arg314ThrfsTer29
ENST00000526988.1:c.623_627del	ENSP00000433195.1:p.Arg208ThrfsTer29
ENST00000529265.5:n.864_868del
ENST00000534553.5:c.163+2421_163+2425del	ENSP00000431189.1:n.163+2421_163+2425del
NM_001139443.1:c.687+74_687+78del	NP_001132915.1:n.687+74_687+78del
NM_001300786.1:c.687+74_687+78del	NP_001287715.1:n.687+74_687+78del
NM_001300787.1:c.687+74_687+78del	NP_001287716.1:n.687+74_687+78del
NM_004183.3:c.867+74_867+78del	NP_004174.1:n.867+74_867+78del
XM_005274210.2:c.867+74_867+78del	XP_005274267.1:n.867+74_867+78del
XM_005274215.2:c.549+74_549+78del	XP_005274272.1:n.549+74_549+78del
XM_005274216.2:c.761_765del	XP_005274273.1:p.Arg254ThrfsTer29
XM_005274218.3:c.623_627del	XP_005274275.1:p.Arg208ThrfsTer29
XM_005274219.2:c.867+74_867+78del	XP_005274276.1:n.867+74_867+78del
XM_005274221.2:c.714+908_714+912del	XP_005274278.1:n.714+908_714+912del
XM_011545229.1:c.867+74_867+78del	XP_011543531.1:n.867+74_867+78del
XM_011545230.1:c.774+74_774+78del	XP_011543532.1:n.774+74_774+78del
XM_011545231.1:c.549+74_549+78del	XP_011543533.1:n.549+74_549+78del
XM_011545232.1:c.941_945del	XP_011543534.1:p.Arg314ThrfsTer29
NM_001363591.1:c.549+74_549+78del	NP_001350520.1:n.549+74_549+78del
NM_001363592.1:c.941_945del	NP_001350521.1:p.Arg314ThrfsTer29
NM_001363593.1:c.-235_-231del	NP_001350522.1:n.-235_-231del
NR_134580.1:n.1521_1525del
XM_005274210.4:c.867+74_867+78del	XP_005274267.1:n.867+74_867+78del
XM_005274215.4:c.549+74_549+78del	XP_005274272.1:n.549+74_549+78del
XM_005274216.4:c.761_765del	XP_005274273.1:p.Arg254ThrfsTer29
XM_005274219.4:c.867+74_867+78del	XP_005274276.1:n.867+74_867+78del
XM_005274221.4:c.714+908_714+912del	XP_005274278.1:n.714+908_714+912del
XM_011545229.3:c.867+74_867+78del	XP_011543531.1:n.867+74_867+78del
XM_011545230.3:c.774+74_774+78del	XP_011543532.1:n.774+74_774+78del
XM_017018230.2:c.623_627del	XP_016873719.1:p.Arg208ThrfsTer29
XR_001747952.2:n.1439_1443del
XR_001747953.2:n.1557+74_1557+78del
XR_001747954.2:n.1404+908_1404+912del
XR_001748245.1:n.353_357del
XR_002957249.1:n.353_357del
NM_004183.4:c.867+74_867+78del MANE Select	NP_004174.1:n.867+74_867+78del
NM_001139443.2:c.687+74_687+78del	NP_001132915.1:n.687+74_687+78del
NM_001300786.2:c.687+74_687+78del	NP_001287715.1:n.687+74_687+78del
NM_001300787.2:c.687+74_687+78del	NP_001287716.1:n.687+74_687+78del
NM_001363591.2:c.549+74_549+78del	NP_001350520.1:n.549+74_549+78del
NM_001363593.2:c.-235_-231del	NP_001350522.1:n.-235_-231del
NR_134580.2:n.1054_1058del