Canonical Allele Identifier: CA2792335823

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959713_61959718del , CM000673.2:g.61959713_61959718del	GRCh38
NC_000011.9:g.61727185_61727190del , CM000673.1:g.61727185_61727190del	GRCh37
NC_000011.8:g.61483761_61483766del	NCBI36
NG_009033.1:g.14830_14835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.948+135_948+140del MANE Select	ENSP00000367282.4:n.948+135_948+140del
ENST00000378043.8:c.948+135_948+140del	ENSP00000367282.4:n.948+135_948+140del
ENST00000449131.6:c.768+135_768+140del	ENSP00000399709.2:n.768+135_768+140del
ENST00000524877.5:n.2579+135_2579+140del
ENST00000524926.5:c.1151+135_1151+140del	ENSP00000432681.1:n.1151+135_1151+140del
ENST00000526988.1:c.833+135_833+140del	ENSP00000433195.1:n.833+135_833+140del
ENST00000534553.5:c.164-2542_164-2537del	ENSP00000431189.1:n.164-2542_164-2537del
NM_001139443.1:c.768+135_768+140del	NP_001132915.1:n.768+135_768+140del
NM_001300786.1:c.688-179_688-174del	NP_001287715.1:n.688-179_688-174del
NM_001300787.1:c.768+135_768+140del	NP_001287716.1:n.768+135_768+140del
NM_004183.3:c.948+135_948+140del	NP_004174.1:n.948+135_948+140del
XM_005274210.2:c.948+135_948+140del	XP_005274267.1:n.948+135_948+140del
XM_005274215.2:c.630+135_630+140del	XP_005274272.1:n.630+135_630+140del
XM_005274216.2:c.971+135_971+140del	XP_005274273.1:n.971+135_971+140del
XM_005274218.3:c.833+135_833+140del	XP_005274275.1:n.833+135_833+140del
XM_005274219.2:c.867+1415_867+1420del	XP_005274276.1:n.867+1415_867+1420del
XM_005274221.2:c.714+2249_714+2254del	XP_005274278.1:n.714+2249_714+2254del
XM_011545229.1:c.948+135_948+140del	XP_011543531.1:n.948+135_948+140del
XM_011545230.1:c.855+135_855+140del	XP_011543532.1:n.855+135_855+140del
XM_011545231.1:c.630+135_630+140del	XP_011543533.1:n.630+135_630+140del
XM_011545232.1:c.1151+135_1151+140del	XP_011543534.1:n.1151+135_1151+140del
XM_011545233.1:c.105+135_105+140del	XP_011543535.1:n.105+135_105+140del
NM_001363591.1:c.630+135_630+140del	NP_001350520.1:n.630+135_630+140del
NM_001363592.1:c.1151+135_1151+140del	NP_001350521.1:n.1151+135_1151+140del
NM_001363593.1:c.-25+135_-25+140del	NP_001350522.1:n.-25+135_-25+140del
NR_134580.1:n.1731+135_1731+140del
XM_005274210.4:c.948+135_948+140del	XP_005274267.1:n.948+135_948+140del
XM_005274215.4:c.630+135_630+140del	XP_005274272.1:n.630+135_630+140del
XM_005274216.4:c.971+135_971+140del	XP_005274273.1:n.971+135_971+140del
XM_005274219.4:c.867+1415_867+1420del	XP_005274276.1:n.867+1415_867+1420del
XM_005274221.4:c.714+2249_714+2254del	XP_005274278.1:n.714+2249_714+2254del
XM_011545229.3:c.948+135_948+140del	XP_011543531.1:n.948+135_948+140del
XM_011545230.3:c.855+135_855+140del	XP_011543532.1:n.855+135_855+140del
XM_011545233.3:c.105+135_105+140del	XP_011543535.1:n.105+135_105+140del
XM_017018230.2:c.833+135_833+140del	XP_016873719.1:n.833+135_833+140del
XR_001747952.2:n.1649+135_1649+140del
XR_001747953.2:n.1557+1415_1557+1420del
XR_001747954.2:n.1404+2249_1404+2254del
XR_001748245.1:n.196+14_196+19del
XR_002957249.1:n.196+14_196+19del
NM_004183.4:c.948+135_948+140del MANE Select	NP_004174.1:n.948+135_948+140del
NM_001139443.2:c.768+135_768+140del	NP_001132915.1:n.768+135_768+140del
NM_001300786.2:c.688-179_688-174del	NP_001287715.1:n.688-179_688-174del
NM_001300787.2:c.768+135_768+140del	NP_001287716.1:n.768+135_768+140del
NM_001363591.2:c.630+135_630+140del	NP_001350520.1:n.630+135_630+140del
NM_001363593.2:c.-25+135_-25+140del	NP_001350522.1:n.-25+135_-25+140del
NR_134580.2:n.1264+135_1264+140del