Canonical Allele Identifier: CA2792335588

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958326_61958338del , CM000673.2:g.61958326_61958338del	GRCh38
NC_000011.9:g.61725798_61725810del , CM000673.1:g.61725798_61725810del	GRCh37
NC_000011.8:g.61482374_61482386del	NCBI36
NG_009033.1:g.13443_13455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+28_867+40del MANE Select	ENSP00000367282.4:n.867+28_867+40del
ENST00000378043.8:c.867+28_867+40del	ENSP00000367282.4:n.867+28_867+40del
ENST00000449131.6:c.687+28_687+40del	ENSP00000399709.2:n.687+28_687+40del
ENST00000524877.5:n.1327_1339del
ENST00000524926.5:c.895_907del	ENSP00000432681.1:p.Trp299ArgfsTer23
ENST00000526988.1:c.577_589del	ENSP00000433195.1:p.Trp193ArgfsTer23
ENST00000529265.5:n.818_830del
ENST00000534553.5:c.163+2375_163+2387del	ENSP00000431189.1:n.163+2375_163+2387del
NM_001139443.1:c.687+28_687+40del	NP_001132915.1:n.687+28_687+40del
NM_001300786.1:c.687+28_687+40del	NP_001287715.1:n.687+28_687+40del
NM_001300787.1:c.687+28_687+40del	NP_001287716.1:n.687+28_687+40del
NM_004183.3:c.867+28_867+40del	NP_004174.1:n.867+28_867+40del
XM_005274210.2:c.867+28_867+40del	XP_005274267.1:n.867+28_867+40del
XM_005274215.2:c.549+28_549+40del	XP_005274272.1:n.549+28_549+40del
XM_005274216.2:c.715_727del	XP_005274273.1:p.Trp239ArgfsTer23
XM_005274218.3:c.577_589del	XP_005274275.1:p.Trp193ArgfsTer23
XM_005274219.2:c.867+28_867+40del	XP_005274276.1:n.867+28_867+40del
XM_005274221.2:c.714+862_714+874del	XP_005274278.1:n.714+862_714+874del
XM_011545229.1:c.867+28_867+40del	XP_011543531.1:n.867+28_867+40del
XM_011545230.1:c.774+28_774+40del	XP_011543532.1:n.774+28_774+40del
XM_011545231.1:c.549+28_549+40del	XP_011543533.1:n.549+28_549+40del
XM_011545232.1:c.895_907del	XP_011543534.1:p.Trp299ArgfsTer23
NM_001363591.1:c.549+28_549+40del	NP_001350520.1:n.549+28_549+40del
NM_001363592.1:c.895_907del	NP_001350521.1:p.Trp299ArgfsTer23
NM_001363593.1:c.-281_-269del	NP_001350522.1:n.-281_-269del
NR_134580.1:n.1475_1487del
XM_005274210.4:c.867+28_867+40del	XP_005274267.1:n.867+28_867+40del
XM_005274215.4:c.549+28_549+40del	XP_005274272.1:n.549+28_549+40del
XM_005274216.4:c.715_727del	XP_005274273.1:p.Trp239ArgfsTer23
XM_005274219.4:c.867+28_867+40del	XP_005274276.1:n.867+28_867+40del
XM_005274221.4:c.714+862_714+874del	XP_005274278.1:n.714+862_714+874del
XM_011545229.3:c.867+28_867+40del	XP_011543531.1:n.867+28_867+40del
XM_011545230.3:c.774+28_774+40del	XP_011543532.1:n.774+28_774+40del
XM_017018230.2:c.577_589del	XP_016873719.1:p.Trp193ArgfsTer23
XR_001747952.2:n.1393_1405del
XR_001747953.2:n.1557+28_1557+40del
XR_001747954.2:n.1404+862_1404+874del
XR_001748245.1:n.392_404del
XR_002957249.1:n.392_404del
NM_004183.4:c.867+28_867+40del MANE Select	NP_004174.1:n.867+28_867+40del
NM_001139443.2:c.687+28_687+40del	NP_001132915.1:n.687+28_687+40del
NM_001300786.2:c.687+28_687+40del	NP_001287715.1:n.687+28_687+40del
NM_001300787.2:c.687+28_687+40del	NP_001287716.1:n.687+28_687+40del
NM_001363591.2:c.549+28_549+40del	NP_001350520.1:n.549+28_549+40del
NM_001363593.2:c.-281_-269del	NP_001350522.1:n.-281_-269del
NR_134580.2:n.1008_1020del