Canonical Allele Identifier: CA2792335587

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958302_61958303insACA , CM000673.2:g.61958302_61958303insACA	GRCh38
NC_000011.9:g.61725774_61725775insACA , CM000673.1:g.61725774_61725775insACA	GRCh37
NC_000011.8:g.61482350_61482351insACA	NCBI36
NG_009033.1:g.13419_13420insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+4_867+5insACA MANE Select	ENSP00000367282.4:n.867+4_867+5insACA
ENST00000378043.8:c.867+4_867+5insACA	ENSP00000367282.4:n.867+4_867+5insACA
ENST00000449131.6:c.687+4_687+5insACA	ENSP00000399709.2:n.687+4_687+5insACA
ENST00000524877.5:n.1303_1304insACA
ENST00000524926.5:c.871_872insACA	ENSP00000432681.1:p.Gly291delinsAspSer
ENST00000526988.1:c.553_554insACA	ENSP00000433195.1:p.Gly185delinsAspSer
ENST00000529265.5:n.794_795insACA
ENST00000534553.5:c.163+2351_163+2352insACA	ENSP00000431189.1:n.163+2351_163+2352insACA
NM_001139443.1:c.687+4_687+5insACA	NP_001132915.1:n.687+4_687+5insACA
NM_001300786.1:c.687+4_687+5insACA	NP_001287715.1:n.687+4_687+5insACA
NM_001300787.1:c.687+4_687+5insACA	NP_001287716.1:n.687+4_687+5insACA
NM_004183.3:c.867+4_867+5insACA	NP_004174.1:n.867+4_867+5insACA
XM_005274210.2:c.867+4_867+5insACA	XP_005274267.1:n.867+4_867+5insACA
XM_005274215.2:c.549+4_549+5insACA	XP_005274272.1:n.549+4_549+5insACA
XM_005274216.2:c.691_692insACA	XP_005274273.1:p.Gly231delinsAspSer
XM_005274218.3:c.553_554insACA	XP_005274275.1:p.Gly185delinsAspSer
XM_005274219.2:c.867+4_867+5insACA	XP_005274276.1:n.867+4_867+5insACA
XM_005274221.2:c.714+838_714+839insACA	XP_005274278.1:n.714+838_714+839insACA
XM_011545229.1:c.867+4_867+5insACA	XP_011543531.1:n.867+4_867+5insACA
XM_011545230.1:c.774+4_774+5insACA	XP_011543532.1:n.774+4_774+5insACA
XM_011545231.1:c.549+4_549+5insACA	XP_011543533.1:n.549+4_549+5insACA
XM_011545232.1:c.871_872insACA	XP_011543534.1:p.Gly291delinsAspSer
NM_001363591.1:c.549+4_549+5insACA	NP_001350520.1:n.549+4_549+5insACA
NM_001363592.1:c.871_872insACA	NP_001350521.1:p.Gly291delinsAspSer
NM_001363593.1:c.-305_-304insACA	NP_001350522.1:n.-305_-304insACA
NR_134580.1:n.1451_1452insACA
XM_005274210.4:c.867+4_867+5insACA	XP_005274267.1:n.867+4_867+5insACA
XM_005274215.4:c.549+4_549+5insACA	XP_005274272.1:n.549+4_549+5insACA
XM_005274216.4:c.691_692insACA	XP_005274273.1:p.Gly231delinsAspSer
XM_005274219.4:c.867+4_867+5insACA	XP_005274276.1:n.867+4_867+5insACA
XM_005274221.4:c.714+838_714+839insACA	XP_005274278.1:n.714+838_714+839insACA
XM_011545229.3:c.867+4_867+5insACA	XP_011543531.1:n.867+4_867+5insACA
XM_011545230.3:c.774+4_774+5insACA	XP_011543532.1:n.774+4_774+5insACA
XM_017018230.2:c.553_554insACA	XP_016873719.1:p.Gly185delinsAspSer
XR_001747952.2:n.1369_1370insACA
XR_001747953.2:n.1557+4_1557+5insACA
XR_001747954.2:n.1404+838_1404+839insACA
XR_001748245.1:n.426_427insTGT
XR_002957249.1:n.426_427insTGT
NM_004183.4:c.867+4_867+5insACA MANE Select	NP_004174.1:n.867+4_867+5insACA
NM_001139443.2:c.687+4_687+5insACA	NP_001132915.1:n.687+4_687+5insACA
NM_001300786.2:c.687+4_687+5insACA	NP_001287715.1:n.687+4_687+5insACA
NM_001300787.2:c.687+4_687+5insACA	NP_001287716.1:n.687+4_687+5insACA
NM_001363591.2:c.549+4_549+5insACA	NP_001350520.1:n.549+4_549+5insACA
NM_001363593.2:c.-305_-304insACA	NP_001350522.1:n.-305_-304insACA
NR_134580.2:n.984_985insACA