Canonical Allele Identifier: CA1977532029

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958321_61958322delinsTG , CM000673.2:g.61958321_61958322delinsTG	GRCh38
NC_000011.9:g.61725793_61725794delinsTG , CM000673.1:g.61725793_61725794delinsTG	GRCh37
NC_000011.8:g.61482369_61482370delinsTG	NCBI36
NG_009033.1:g.13438_13439delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+23_867+24delinsTG MANE Select	ENSP00000367282.4:n.867+23_867+24delinsTG
ENST00000378043.8:c.867+23_867+24delinsTG	ENSP00000367282.4:n.867+23_867+24delinsTG
ENST00000449131.6:c.687+23_687+24delinsTG	ENSP00000399709.2:n.687+23_687+24delinsTG
ENST00000524877.5:n.1322_1323delinsTG
ENST00000524926.5:c.890_891delinsTG	ENSP00000432681.1:p.Leu297=
ENST00000526988.1:c.572_573delinsTG	ENSP00000433195.1:p.Leu191=
ENST00000529265.5:n.813_814delinsTG
ENST00000534553.5:c.163+2370_163+2371delinsTG	ENSP00000431189.1:n.163+2370_163+2371delinsTG
NM_001139443.1:c.687+23_687+24delinsTG	NP_001132915.1:n.687+23_687+24delinsTG
NM_001300786.1:c.687+23_687+24delinsTG	NP_001287715.1:n.687+23_687+24delinsTG
NM_001300787.1:c.687+23_687+24delinsTG	NP_001287716.1:n.687+23_687+24delinsTG
NM_004183.3:c.867+23_867+24delinsTG	NP_004174.1:n.867+23_867+24delinsTG
XM_005274210.2:c.867+23_867+24delinsTG	XP_005274267.1:n.867+23_867+24delinsTG
XM_005274215.2:c.549+23_549+24delinsTG	XP_005274272.1:n.549+23_549+24delinsTG
XM_005274216.2:c.710_711delinsTG	XP_005274273.1:p.Leu237=
XM_005274218.3:c.572_573delinsTG	XP_005274275.1:p.Leu191=
XM_005274219.2:c.867+23_867+24delinsTG	XP_005274276.1:n.867+23_867+24delinsTG
XM_005274221.2:c.714+857_714+858delinsTG	XP_005274278.1:n.714+857_714+858delinsTG
XM_011545229.1:c.867+23_867+24delinsTG	XP_011543531.1:n.867+23_867+24delinsTG
XM_011545230.1:c.774+23_774+24delinsTG	XP_011543532.1:n.774+23_774+24delinsTG
XM_011545231.1:c.549+23_549+24delinsTG	XP_011543533.1:n.549+23_549+24delinsTG
XM_011545232.1:c.890_891delinsTG	XP_011543534.1:p.Leu297=
NM_001363591.1:c.549+23_549+24delinsTG	NP_001350520.1:n.549+23_549+24delinsTG
NM_001363592.1:c.890_891delinsTG	NP_001350521.1:p.Leu297=
NM_001363593.1:c.-286_-285delinsTG	NP_001350522.1:n.-286_-285delinsTG
NR_134580.1:n.1470_1471delinsTG
XM_005274210.4:c.867+23_867+24delinsTG	XP_005274267.1:n.867+23_867+24delinsTG
XM_005274215.4:c.549+23_549+24delinsTG	XP_005274272.1:n.549+23_549+24delinsTG
XM_005274216.4:c.710_711delinsTG	XP_005274273.1:p.Leu237=
XM_005274219.4:c.867+23_867+24delinsTG	XP_005274276.1:n.867+23_867+24delinsTG
XM_005274221.4:c.714+857_714+858delinsTG	XP_005274278.1:n.714+857_714+858delinsTG
XM_011545229.3:c.867+23_867+24delinsTG	XP_011543531.1:n.867+23_867+24delinsTG
XM_011545230.3:c.774+23_774+24delinsTG	XP_011543532.1:n.774+23_774+24delinsTG
XM_017018230.2:c.572_573delinsTG	XP_016873719.1:p.Leu191=
XR_001747952.2:n.1388_1389delinsTG
XR_001747953.2:n.1557+23_1557+24delinsTG
XR_001747954.2:n.1404+857_1404+858delinsTG
XR_001748245.1:n.407_408delinsCA
XR_002957249.1:n.407_408delinsCA
NM_004183.4:c.867+23_867+24delinsTG MANE Select	NP_004174.1:n.867+23_867+24delinsTG
NM_001139443.2:c.687+23_687+24delinsTG	NP_001132915.1:n.687+23_687+24delinsTG
NM_001300786.2:c.687+23_687+24delinsTG	NP_001287715.1:n.687+23_687+24delinsTG
NM_001300787.2:c.687+23_687+24delinsTG	NP_001287716.1:n.687+23_687+24delinsTG
NM_001363591.2:c.549+23_549+24delinsTG	NP_001350520.1:n.549+23_549+24delinsTG
NM_001363593.2:c.-286_-285delinsTG	NP_001350522.1:n.-286_-285delinsTG
NR_134580.2:n.1003_1004delinsTG