Canonical Allele Identifier: CA2613925833

Gene: BEST1

Linked Data

• gnomAD v4: 11-61959334-C-CGTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959334_61959335insGTAT , CM000673.2:g.61959334_61959335insGTAT	GRCh38
NC_000011.9:g.61726806_61726807insGTAT , CM000673.1:g.61726806_61726807insGTAT	GRCh37
NC_000011.8:g.61483382_61483383insGTAT	NCBI36
NG_009033.1:g.14451_14452insGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.868-164_868-163insGTAT MANE Select	ENSP00000367282.4:n.868-164_868-163insGTAT
ENST00000378043.8:c.868-164_868-163insGTAT	ENSP00000367282.4:n.868-164_868-163insGTAT
ENST00000449131.6:c.688-164_688-163insGTAT	ENSP00000399709.2:n.688-164_688-163insGTAT
ENST00000524877.5:n.2335_2336insGTAT
ENST00000524926.5:c.1071-164_1071-163insGTAT	ENSP00000432681.1:n.1071-164_1071-163insGTAT
ENST00000526988.1:c.753-164_753-163insGTAT	ENSP00000433195.1:n.753-164_753-163insGTAT
ENST00000534553.5:c.164-2921_164-2920insGTAT	ENSP00000431189.1:n.164-2921_164-2920insGTAT
NM_001139443.1:c.688-164_688-163insGTAT	NP_001132915.1:n.688-164_688-163insGTAT
NM_001300786.1:c.688-558_688-557insGTAT	NP_001287715.1:n.688-558_688-557insGTAT
NM_001300787.1:c.688-164_688-163insGTAT	NP_001287716.1:n.688-164_688-163insGTAT
NM_004183.3:c.868-164_868-163insGTAT	NP_004174.1:n.868-164_868-163insGTAT
XM_005274210.2:c.868-164_868-163insGTAT	XP_005274267.1:n.868-164_868-163insGTAT
XM_005274215.2:c.550-164_550-163insGTAT	XP_005274272.1:n.550-164_550-163insGTAT
XM_005274216.2:c.891-164_891-163insGTAT	XP_005274273.1:n.891-164_891-163insGTAT
XM_005274218.3:c.753-164_753-163insGTAT	XP_005274275.1:n.753-164_753-163insGTAT
XM_005274219.2:c.867+1036_867+1037insGTAT	XP_005274276.1:n.867+1036_867+1037insGTAT
XM_005274221.2:c.714+1870_714+1871insGTAT	XP_005274278.1:n.714+1870_714+1871insGTAT
XM_011545229.1:c.868-164_868-163insGTAT	XP_011543531.1:n.868-164_868-163insGTAT
XM_011545230.1:c.775-164_775-163insGTAT	XP_011543532.1:n.775-164_775-163insGTAT
XM_011545231.1:c.550-164_550-163insGTAT	XP_011543533.1:n.550-164_550-163insGTAT
XM_011545232.1:c.1071-164_1071-163insGTAT	XP_011543534.1:n.1071-164_1071-163insGTAT
XM_011545233.1:c.24+129_24+130insGTAT	XP_011543535.1:n.24+129_24+130insGTAT
NM_001363591.1:c.550-164_550-163insGTAT	NP_001350520.1:n.550-164_550-163insGTAT
NM_001363592.1:c.1071-164_1071-163insGTAT	NP_001350521.1:n.1071-164_1071-163insGTAT
NM_001363593.1:c.-105-164_-105-163insGTAT	NP_001350522.1:n.-105-164_-105-163insGTAT
NR_134580.1:n.1651-164_1651-163insGTAT
XM_005274210.4:c.868-164_868-163insGTAT	XP_005274267.1:n.868-164_868-163insGTAT
XM_005274215.4:c.550-164_550-163insGTAT	XP_005274272.1:n.550-164_550-163insGTAT
XM_005274216.4:c.891-164_891-163insGTAT	XP_005274273.1:n.891-164_891-163insGTAT
XM_005274219.4:c.867+1036_867+1037insGTAT	XP_005274276.1:n.867+1036_867+1037insGTAT
XM_005274221.4:c.714+1870_714+1871insGTAT	XP_005274278.1:n.714+1870_714+1871insGTAT
XM_011545229.3:c.868-164_868-163insGTAT	XP_011543531.1:n.868-164_868-163insGTAT
XM_011545230.3:c.775-164_775-163insGTAT	XP_011543532.1:n.775-164_775-163insGTAT
XM_011545233.3:c.24+129_24+130insGTAT	XP_011543535.1:n.24+129_24+130insGTAT
XM_017018230.2:c.753-164_753-163insGTAT	XP_016873719.1:n.753-164_753-163insGTAT
XR_001747952.2:n.1569-164_1569-163insGTAT
XR_001747953.2:n.1557+1036_1557+1037insGTAT
XR_001747954.2:n.1404+1870_1404+1871insGTAT
XR_001748245.1:n.196+397_196+398insATAC
XR_002957249.1:n.196+397_196+398insATAC
NM_004183.4:c.868-164_868-163insGTAT MANE Select	NP_004174.1:n.868-164_868-163insGTAT
NM_001139443.2:c.688-164_688-163insGTAT	NP_001132915.1:n.688-164_688-163insGTAT
NM_001300786.2:c.688-558_688-557insGTAT	NP_001287715.1:n.688-558_688-557insGTAT
NM_001300787.2:c.688-164_688-163insGTAT	NP_001287716.1:n.688-164_688-163insGTAT
NM_001363591.2:c.550-164_550-163insGTAT	NP_001350520.1:n.550-164_550-163insGTAT
NM_001363593.2:c.-105-164_-105-163insGTAT	NP_001350522.1:n.-105-164_-105-163insGTAT
NR_134580.2:n.1184-164_1184-163insGTAT