Canonical Allele Identifier: CA2499221107

Gene: BEST1

Linked Data

• ClinVar Variation Id: 1067832
• ClinVar RCV Id: RCV001379201
• dbSNP Id: rs2134453733

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959579_61959580delinsTA , CM000673.2:g.61959579_61959580delinsTA	GRCh38
NC_000011.9:g.61727051_61727052delinsTA , CM000673.1:g.61727051_61727052delinsTA	GRCh37
NC_000011.8:g.61483627_61483628delinsTA	NCBI36
NG_009033.1:g.14696_14697delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.948+1_948+2delinsTA MANE Select	ENSP00000367282.4:n.948+1_948+2delinsTA
ENST00000378043.8:c.948+1_948+2delinsTA	ENSP00000367282.4:n.948+1_948+2delinsTA
ENST00000449131.6:c.768+1_768+2delinsTA	ENSP00000399709.2:n.768+1_768+2delinsTA
ENST00000524877.5:n.2579+1_2579+2delinsTA
ENST00000524926.5:c.1151+1_1151+2delinsTA	ENSP00000432681.1:n.1151+1_1151+2delinsTA
ENST00000526988.1:c.833+1_833+2delinsTA	ENSP00000433195.1:n.833+1_833+2delinsTA
ENST00000534553.5:c.164-2676_164-2675delinsTA	ENSP00000431189.1:n.164-2676_164-2675delinsTA
NM_001139443.1:c.768+1_768+2delinsTA	NP_001132915.1:n.768+1_768+2delinsTA
NM_001300786.1:c.688-313_688-312delinsTA	NP_001287715.1:n.688-313_688-312delinsTA
NM_001300787.1:c.768+1_768+2delinsTA	NP_001287716.1:n.768+1_768+2delinsTA
NM_004183.3:c.948+1_948+2delinsTA	NP_004174.1:n.948+1_948+2delinsTA
XM_005274210.2:c.948+1_948+2delinsTA	XP_005274267.1:n.948+1_948+2delinsTA
XM_005274215.2:c.630+1_630+2delinsTA	XP_005274272.1:n.630+1_630+2delinsTA
XM_005274216.2:c.971+1_971+2delinsTA	XP_005274273.1:n.971+1_971+2delinsTA
XM_005274218.3:c.833+1_833+2delinsTA	XP_005274275.1:n.833+1_833+2delinsTA
XM_005274219.2:c.867+1281_867+1282delinsTA	XP_005274276.1:n.867+1281_867+1282delinsTA
XM_005274221.2:c.714+2115_714+2116delinsTA	XP_005274278.1:n.714+2115_714+2116delinsTA
XM_011545229.1:c.948+1_948+2delinsTA	XP_011543531.1:n.948+1_948+2delinsTA
XM_011545230.1:c.855+1_855+2delinsTA	XP_011543532.1:n.855+1_855+2delinsTA
XM_011545231.1:c.630+1_630+2delinsTA	XP_011543533.1:n.630+1_630+2delinsTA
XM_011545232.1:c.1151+1_1151+2delinsTA	XP_011543534.1:n.1151+1_1151+2delinsTA
XM_011545233.1:c.105+1_105+2delinsTA	XP_011543535.1:n.105+1_105+2delinsTA
NM_001363591.1:c.630+1_630+2delinsTA	NP_001350520.1:n.630+1_630+2delinsTA
NM_001363592.1:c.1151+1_1151+2delinsTA	NP_001350521.1:n.1151+1_1151+2delinsTA
NM_001363593.1:c.-25+1_-25+2delinsTA	NP_001350522.1:n.-25+1_-25+2delinsTA
NR_134580.1:n.1731+1_1731+2delinsTA
XM_005274210.4:c.948+1_948+2delinsTA	XP_005274267.1:n.948+1_948+2delinsTA
XM_005274215.4:c.630+1_630+2delinsTA	XP_005274272.1:n.630+1_630+2delinsTA
XM_005274216.4:c.971+1_971+2delinsTA	XP_005274273.1:n.971+1_971+2delinsTA
XM_005274219.4:c.867+1281_867+1282delinsTA	XP_005274276.1:n.867+1281_867+1282delinsTA
XM_005274221.4:c.714+2115_714+2116delinsTA	XP_005274278.1:n.714+2115_714+2116delinsTA
XM_011545229.3:c.948+1_948+2delinsTA	XP_011543531.1:n.948+1_948+2delinsTA
XM_011545230.3:c.855+1_855+2delinsTA	XP_011543532.1:n.855+1_855+2delinsTA
XM_011545233.3:c.105+1_105+2delinsTA	XP_011543535.1:n.105+1_105+2delinsTA
XM_017018230.2:c.833+1_833+2delinsTA	XP_016873719.1:n.833+1_833+2delinsTA
XR_001747952.2:n.1649+1_1649+2delinsTA
XR_001747953.2:n.1557+1281_1557+1282delinsTA
XR_001747954.2:n.1404+2115_1404+2116delinsTA
XR_001748245.1:n.196+152_196+153delinsTA
XR_002957249.1:n.196+152_196+153delinsTA
NM_004183.4:c.948+1_948+2delinsTA MANE Select	NP_004174.1:n.948+1_948+2delinsTA
NM_001139443.2:c.768+1_768+2delinsTA	NP_001132915.1:n.768+1_768+2delinsTA
NM_001300786.2:c.688-313_688-312delinsTA	NP_001287715.1:n.688-313_688-312delinsTA
NM_001300787.2:c.768+1_768+2delinsTA	NP_001287716.1:n.768+1_768+2delinsTA
NM_001363591.2:c.630+1_630+2delinsTA	NP_001350520.1:n.630+1_630+2delinsTA
NM_001363593.2:c.-25+1_-25+2delinsTA	NP_001350522.1:n.-25+1_-25+2delinsTA
NR_134580.2:n.1264+1_1264+2delinsTA