Canonical Allele Identifier: CA2613925834

Gene: BEST1

Linked Data

• gnomAD v4: 11-61959335-C-CATTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959336_61959337insTTAAA , CM000673.2:g.61959336_61959337insTTAAA	GRCh38
NC_000011.9:g.61726808_61726809insTTAAA , CM000673.1:g.61726808_61726809insTTAAA	GRCh37
NC_000011.8:g.61483384_61483385insTTAAA	NCBI36
NG_009033.1:g.14453_14454insTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.868-162_868-161insTTAAA MANE Select	ENSP00000367282.4:n.868-162_868-161insTTAAA
ENST00000378043.8:c.868-162_868-161insTTAAA	ENSP00000367282.4:n.868-162_868-161insTTAAA
ENST00000449131.6:c.688-162_688-161insTTAAA	ENSP00000399709.2:n.688-162_688-161insTTAAA
ENST00000524877.5:n.2337_2338insTTAAA
ENST00000524926.5:c.1071-162_1071-161insTTAAA	ENSP00000432681.1:n.1071-162_1071-161insTTAAA
ENST00000526988.1:c.753-162_753-161insTTAAA	ENSP00000433195.1:n.753-162_753-161insTTAAA
ENST00000534553.5:c.164-2919_164-2918insTTAAA	ENSP00000431189.1:n.164-2919_164-2918insTTAAA
NM_001139443.1:c.688-162_688-161insTTAAA	NP_001132915.1:n.688-162_688-161insTTAAA
NM_001300786.1:c.688-556_688-555insTTAAA	NP_001287715.1:n.688-556_688-555insTTAAA
NM_001300787.1:c.688-162_688-161insTTAAA	NP_001287716.1:n.688-162_688-161insTTAAA
NM_004183.3:c.868-162_868-161insTTAAA	NP_004174.1:n.868-162_868-161insTTAAA
XM_005274210.2:c.868-162_868-161insTTAAA	XP_005274267.1:n.868-162_868-161insTTAAA
XM_005274215.2:c.550-162_550-161insTTAAA	XP_005274272.1:n.550-162_550-161insTTAAA
XM_005274216.2:c.891-162_891-161insTTAAA	XP_005274273.1:n.891-162_891-161insTTAAA
XM_005274218.3:c.753-162_753-161insTTAAA	XP_005274275.1:n.753-162_753-161insTTAAA
XM_005274219.2:c.867+1038_867+1039insTTAAA	XP_005274276.1:n.867+1038_867+1039insTTAAA
XM_005274221.2:c.714+1872_714+1873insTTAAA	XP_005274278.1:n.714+1872_714+1873insTTAAA
XM_011545229.1:c.868-162_868-161insTTAAA	XP_011543531.1:n.868-162_868-161insTTAAA
XM_011545230.1:c.775-162_775-161insTTAAA	XP_011543532.1:n.775-162_775-161insTTAAA
XM_011545231.1:c.550-162_550-161insTTAAA	XP_011543533.1:n.550-162_550-161insTTAAA
XM_011545232.1:c.1071-162_1071-161insTTAAA	XP_011543534.1:n.1071-162_1071-161insTTAAA
XM_011545233.1:c.24+131_24+132insTTAAA	XP_011543535.1:n.24+131_24+132insTTAAA
NM_001363591.1:c.550-162_550-161insTTAAA	NP_001350520.1:n.550-162_550-161insTTAAA
NM_001363592.1:c.1071-162_1071-161insTTAAA	NP_001350521.1:n.1071-162_1071-161insTTAAA
NM_001363593.1:c.-105-162_-105-161insTTAAA	NP_001350522.1:n.-105-162_-105-161insTTAAA
NR_134580.1:n.1651-162_1651-161insTTAAA
XM_005274210.4:c.868-162_868-161insTTAAA	XP_005274267.1:n.868-162_868-161insTTAAA
XM_005274215.4:c.550-162_550-161insTTAAA	XP_005274272.1:n.550-162_550-161insTTAAA
XM_005274216.4:c.891-162_891-161insTTAAA	XP_005274273.1:n.891-162_891-161insTTAAA
XM_005274219.4:c.867+1038_867+1039insTTAAA	XP_005274276.1:n.867+1038_867+1039insTTAAA
XM_005274221.4:c.714+1872_714+1873insTTAAA	XP_005274278.1:n.714+1872_714+1873insTTAAA
XM_011545229.3:c.868-162_868-161insTTAAA	XP_011543531.1:n.868-162_868-161insTTAAA
XM_011545230.3:c.775-162_775-161insTTAAA	XP_011543532.1:n.775-162_775-161insTTAAA
XM_011545233.3:c.24+131_24+132insTTAAA	XP_011543535.1:n.24+131_24+132insTTAAA
XM_017018230.2:c.753-162_753-161insTTAAA	XP_016873719.1:n.753-162_753-161insTTAAA
XR_001747952.2:n.1569-162_1569-161insTTAAA
XR_001747953.2:n.1557+1038_1557+1039insTTAAA
XR_001747954.2:n.1404+1872_1404+1873insTTAAA
XR_001748245.1:n.196+396_196+397insTTAAT
XR_002957249.1:n.196+396_196+397insTTAAT
NM_004183.4:c.868-162_868-161insTTAAA MANE Select	NP_004174.1:n.868-162_868-161insTTAAA
NM_001139443.2:c.688-162_688-161insTTAAA	NP_001132915.1:n.688-162_688-161insTTAAA
NM_001300786.2:c.688-556_688-555insTTAAA	NP_001287715.1:n.688-556_688-555insTTAAA
NM_001300787.2:c.688-162_688-161insTTAAA	NP_001287716.1:n.688-162_688-161insTTAAA
NM_001363591.2:c.550-162_550-161insTTAAA	NP_001350520.1:n.550-162_550-161insTTAAA
NM_001363593.2:c.-105-162_-105-161insTTAAA	NP_001350522.1:n.-105-162_-105-161insTTAAA
NR_134580.2:n.1184-162_1184-161insTTAAA