Canonical Allele Identifier: CA2792335598

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958365_61958367del , CM000673.2:g.61958365_61958367del	GRCh38
NC_000011.9:g.61725837_61725839del , CM000673.1:g.61725837_61725839del	GRCh37
NC_000011.8:g.61482413_61482415del	NCBI36
NG_009033.1:g.13482_13484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+67_867+69del MANE Select	ENSP00000367282.4:n.867+67_867+69del
ENST00000378043.8:c.867+67_867+69del	ENSP00000367282.4:n.867+67_867+69del
ENST00000449131.6:c.687+67_687+69del	ENSP00000399709.2:n.687+67_687+69del
ENST00000524877.5:n.1366_1368del
ENST00000524926.5:c.934_936del	ENSP00000432681.1:p.Glu312del
ENST00000526988.1:c.616_618del	ENSP00000433195.1:p.Glu206del
ENST00000529265.5:n.857_859del
ENST00000534553.5:c.163+2414_163+2416del	ENSP00000431189.1:n.163+2414_163+2416del
NM_001139443.1:c.687+67_687+69del	NP_001132915.1:n.687+67_687+69del
NM_001300786.1:c.687+67_687+69del	NP_001287715.1:n.687+67_687+69del
NM_001300787.1:c.687+67_687+69del	NP_001287716.1:n.687+67_687+69del
NM_004183.3:c.867+67_867+69del	NP_004174.1:n.867+67_867+69del
XM_005274210.2:c.867+67_867+69del	XP_005274267.1:n.867+67_867+69del
XM_005274215.2:c.549+67_549+69del	XP_005274272.1:n.549+67_549+69del
XM_005274216.2:c.754_756del	XP_005274273.1:p.Glu252del
XM_005274218.3:c.616_618del	XP_005274275.1:p.Glu206del
XM_005274219.2:c.867+67_867+69del	XP_005274276.1:n.867+67_867+69del
XM_005274221.2:c.714+901_714+903del	XP_005274278.1:n.714+901_714+903del
XM_011545229.1:c.867+67_867+69del	XP_011543531.1:n.867+67_867+69del
XM_011545230.1:c.774+67_774+69del	XP_011543532.1:n.774+67_774+69del
XM_011545231.1:c.549+67_549+69del	XP_011543533.1:n.549+67_549+69del
XM_011545232.1:c.934_936del	XP_011543534.1:p.Glu312del
NM_001363591.1:c.549+67_549+69del	NP_001350520.1:n.549+67_549+69del
NM_001363592.1:c.934_936del	NP_001350521.1:p.Glu312del
NM_001363593.1:c.-242_-240del	NP_001350522.1:n.-242_-240del
NR_134580.1:n.1514_1516del
XM_005274210.4:c.867+67_867+69del	XP_005274267.1:n.867+67_867+69del
XM_005274215.4:c.549+67_549+69del	XP_005274272.1:n.549+67_549+69del
XM_005274216.4:c.754_756del	XP_005274273.1:p.Glu252del
XM_005274219.4:c.867+67_867+69del	XP_005274276.1:n.867+67_867+69del
XM_005274221.4:c.714+901_714+903del	XP_005274278.1:n.714+901_714+903del
XM_011545229.3:c.867+67_867+69del	XP_011543531.1:n.867+67_867+69del
XM_011545230.3:c.774+67_774+69del	XP_011543532.1:n.774+67_774+69del
XM_017018230.2:c.616_618del	XP_016873719.1:p.Glu206del
XR_001747952.2:n.1432_1434del
XR_001747953.2:n.1557+67_1557+69del
XR_001747954.2:n.1404+901_1404+903del
XR_001748245.1:n.362_364del
XR_002957249.1:n.362_364del
NM_004183.4:c.867+67_867+69del MANE Select	NP_004174.1:n.867+67_867+69del
NM_001139443.2:c.687+67_687+69del	NP_001132915.1:n.687+67_687+69del
NM_001300786.2:c.687+67_687+69del	NP_001287715.1:n.687+67_687+69del
NM_001300787.2:c.687+67_687+69del	NP_001287716.1:n.687+67_687+69del
NM_001363591.2:c.549+67_549+69del	NP_001350520.1:n.549+67_549+69del
NM_001363593.2:c.-242_-240del	NP_001350522.1:n.-242_-240del
NR_134580.2:n.1047_1049del