Canonical Allele Identifier: CA2613925777

Gene: BEST1

Linked Data

• gnomAD v4: 11-61959325-T-TCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959325_61959326insCG , CM000673.2:g.61959325_61959326insCG	GRCh38
NC_000011.9:g.61726797_61726798insCG , CM000673.1:g.61726797_61726798insCG	GRCh37
NC_000011.8:g.61483373_61483374insCG	NCBI36
NG_009033.1:g.14442_14443insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.868-173_868-172insCG MANE Select	ENSP00000367282.4:n.868-173_868-172insCG
ENST00000378043.8:c.868-173_868-172insCG	ENSP00000367282.4:n.868-173_868-172insCG
ENST00000449131.6:c.688-173_688-172insCG	ENSP00000399709.2:n.688-173_688-172insCG
ENST00000524877.5:n.2326_2327insCG
ENST00000524926.5:c.1071-173_1071-172insCG	ENSP00000432681.1:n.1071-173_1071-172insCG
ENST00000526988.1:c.753-173_753-172insCG	ENSP00000433195.1:n.753-173_753-172insCG
ENST00000534553.5:c.164-2930_164-2929insCG	ENSP00000431189.1:n.164-2930_164-2929insCG
NM_001139443.1:c.688-173_688-172insCG	NP_001132915.1:n.688-173_688-172insCG
NM_001300786.1:c.688-567_688-566insCG	NP_001287715.1:n.688-567_688-566insCG
NM_001300787.1:c.688-173_688-172insCG	NP_001287716.1:n.688-173_688-172insCG
NM_004183.3:c.868-173_868-172insCG	NP_004174.1:n.868-173_868-172insCG
XM_005274210.2:c.868-173_868-172insCG	XP_005274267.1:n.868-173_868-172insCG
XM_005274215.2:c.550-173_550-172insCG	XP_005274272.1:n.550-173_550-172insCG
XM_005274216.2:c.891-173_891-172insCG	XP_005274273.1:n.891-173_891-172insCG
XM_005274218.3:c.753-173_753-172insCG	XP_005274275.1:n.753-173_753-172insCG
XM_005274219.2:c.867+1027_867+1028insCG	XP_005274276.1:n.867+1027_867+1028insCG
XM_005274221.2:c.714+1861_714+1862insCG	XP_005274278.1:n.714+1861_714+1862insCG
XM_011545229.1:c.868-173_868-172insCG	XP_011543531.1:n.868-173_868-172insCG
XM_011545230.1:c.775-173_775-172insCG	XP_011543532.1:n.775-173_775-172insCG
XM_011545231.1:c.550-173_550-172insCG	XP_011543533.1:n.550-173_550-172insCG
XM_011545232.1:c.1071-173_1071-172insCG	XP_011543534.1:n.1071-173_1071-172insCG
XM_011545233.1:c.24+120_24+121insCG	XP_011543535.1:n.24+120_24+121insCG
NM_001363591.1:c.550-173_550-172insCG	NP_001350520.1:n.550-173_550-172insCG
NM_001363592.1:c.1071-173_1071-172insCG	NP_001350521.1:n.1071-173_1071-172insCG
NM_001363593.1:c.-105-173_-105-172insCG	NP_001350522.1:n.-105-173_-105-172insCG
NR_134580.1:n.1651-173_1651-172insCG
XM_005274210.4:c.868-173_868-172insCG	XP_005274267.1:n.868-173_868-172insCG
XM_005274215.4:c.550-173_550-172insCG	XP_005274272.1:n.550-173_550-172insCG
XM_005274216.4:c.891-173_891-172insCG	XP_005274273.1:n.891-173_891-172insCG
XM_005274219.4:c.867+1027_867+1028insCG	XP_005274276.1:n.867+1027_867+1028insCG
XM_005274221.4:c.714+1861_714+1862insCG	XP_005274278.1:n.714+1861_714+1862insCG
XM_011545229.3:c.868-173_868-172insCG	XP_011543531.1:n.868-173_868-172insCG
XM_011545230.3:c.775-173_775-172insCG	XP_011543532.1:n.775-173_775-172insCG
XM_011545233.3:c.24+120_24+121insCG	XP_011543535.1:n.24+120_24+121insCG
XM_017018230.2:c.753-173_753-172insCG	XP_016873719.1:n.753-173_753-172insCG
XR_001747952.2:n.1569-173_1569-172insCG
XR_001747953.2:n.1557+1027_1557+1028insCG
XR_001747954.2:n.1404+1861_1404+1862insCG
XR_001748245.1:n.196+406_196+407insCG
XR_002957249.1:n.196+406_196+407insCG
NM_004183.4:c.868-173_868-172insCG MANE Select	NP_004174.1:n.868-173_868-172insCG
NM_001139443.2:c.688-173_688-172insCG	NP_001132915.1:n.688-173_688-172insCG
NM_001300786.2:c.688-567_688-566insCG	NP_001287715.1:n.688-567_688-566insCG
NM_001300787.2:c.688-173_688-172insCG	NP_001287716.1:n.688-173_688-172insCG
NM_001363591.2:c.550-173_550-172insCG	NP_001350520.1:n.550-173_550-172insCG
NM_001363593.2:c.-105-173_-105-172insCG	NP_001350522.1:n.-105-173_-105-172insCG
NR_134580.2:n.1184-173_1184-172insCG