Canonical Allele Identifier: CA1977534380

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959686_61959693delinsCCCCTCCT , CM000673.2:g.61959686_61959693delinsCCCCTCCT	GRCh38
NC_000011.9:g.61727158_61727165delinsCCCCTCCT , CM000673.1:g.61727158_61727165delinsCCCCTCCT	GRCh37
NC_000011.8:g.61483734_61483741delinsCCCCTCCT	NCBI36
NG_009033.1:g.14803_14810delinsCCCCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.948+108_948+115delinsCCCCTCCT MANE Select	ENSP00000367282.4:n.948+108_948+115delinsCCCCTCCT
ENST00000378043.8:c.948+108_948+115delinsCCCCTCCT	ENSP00000367282.4:n.948+108_948+115delinsCCCCTCCT
ENST00000449131.6:c.768+108_768+115delinsCCCCTCCT	ENSP00000399709.2:n.768+108_768+115delinsCCCCTCCT
ENST00000524877.5:n.2579+108_2579+115delinsCCCCTCCT
ENST00000524926.5:c.1151+108_1151+115delinsCCCCTCCT	ENSP00000432681.1:n.1151+108_1151+115delinsCCCCTCCT
ENST00000526988.1:c.833+108_833+115delinsCCCCTCCT	ENSP00000433195.1:n.833+108_833+115delinsCCCCTCCT
ENST00000534553.5:c.164-2569_164-2562delinsCCCCTCCT	ENSP00000431189.1:n.164-2569_164-2562delinsCCCCTCCT
NM_001139443.1:c.768+108_768+115delinsCCCCTCCT	NP_001132915.1:n.768+108_768+115delinsCCCCTCCT
NM_001300786.1:c.688-206_688-199delinsCCCCTCCT	NP_001287715.1:n.688-206_688-199delinsCCCCTCCT
NM_001300787.1:c.768+108_768+115delinsCCCCTCCT	NP_001287716.1:n.768+108_768+115delinsCCCCTCCT
NM_004183.3:c.948+108_948+115delinsCCCCTCCT	NP_004174.1:n.948+108_948+115delinsCCCCTCCT
XM_005274210.2:c.948+108_948+115delinsCCCCTCCT	XP_005274267.1:n.948+108_948+115delinsCCCCTCCT
XM_005274215.2:c.630+108_630+115delinsCCCCTCCT	XP_005274272.1:n.630+108_630+115delinsCCCCTCCT
XM_005274216.2:c.971+108_971+115delinsCCCCTCCT	XP_005274273.1:n.971+108_971+115delinsCCCCTCCT
XM_005274218.3:c.833+108_833+115delinsCCCCTCCT	XP_005274275.1:n.833+108_833+115delinsCCCCTCCT
XM_005274219.2:c.867+1388_867+1395delinsCCCCTCCT	XP_005274276.1:n.867+1388_867+1395delinsCCCCTCCT
XM_005274221.2:c.714+2222_714+2229delinsCCCCTCCT	XP_005274278.1:n.714+2222_714+2229delinsCCCCTCCT
XM_011545229.1:c.948+108_948+115delinsCCCCTCCT	XP_011543531.1:n.948+108_948+115delinsCCCCTCCT
XM_011545230.1:c.855+108_855+115delinsCCCCTCCT	XP_011543532.1:n.855+108_855+115delinsCCCCTCCT
XM_011545231.1:c.630+108_630+115delinsCCCCTCCT	XP_011543533.1:n.630+108_630+115delinsCCCCTCCT
XM_011545232.1:c.1151+108_1151+115delinsCCCCTCCT	XP_011543534.1:n.1151+108_1151+115delinsCCCCTCCT
XM_011545233.1:c.105+108_105+115delinsCCCCTCCT	XP_011543535.1:n.105+108_105+115delinsCCCCTCCT
NM_001363591.1:c.630+108_630+115delinsCCCCTCCT	NP_001350520.1:n.630+108_630+115delinsCCCCTCCT
NM_001363592.1:c.1151+108_1151+115delinsCCCCTCCT	NP_001350521.1:n.1151+108_1151+115delinsCCCCTCCT
NM_001363593.1:c.-25+108_-25+115delinsCCCCTCCT	NP_001350522.1:n.-25+108_-25+115delinsCCCCTCCT
NR_134580.1:n.1731+108_1731+115delinsCCCCTCCT
XM_005274210.4:c.948+108_948+115delinsCCCCTCCT	XP_005274267.1:n.948+108_948+115delinsCCCCTCCT
XM_005274215.4:c.630+108_630+115delinsCCCCTCCT	XP_005274272.1:n.630+108_630+115delinsCCCCTCCT
XM_005274216.4:c.971+108_971+115delinsCCCCTCCT	XP_005274273.1:n.971+108_971+115delinsCCCCTCCT
XM_005274219.4:c.867+1388_867+1395delinsCCCCTCCT	XP_005274276.1:n.867+1388_867+1395delinsCCCCTCCT
XM_005274221.4:c.714+2222_714+2229delinsCCCCTCCT	XP_005274278.1:n.714+2222_714+2229delinsCCCCTCCT
XM_011545229.3:c.948+108_948+115delinsCCCCTCCT	XP_011543531.1:n.948+108_948+115delinsCCCCTCCT
XM_011545230.3:c.855+108_855+115delinsCCCCTCCT	XP_011543532.1:n.855+108_855+115delinsCCCCTCCT
XM_011545233.3:c.105+108_105+115delinsCCCCTCCT	XP_011543535.1:n.105+108_105+115delinsCCCCTCCT
XM_017018230.2:c.833+108_833+115delinsCCCCTCCT	XP_016873719.1:n.833+108_833+115delinsCCCCTCCT
XR_001747952.2:n.1649+108_1649+115delinsCCCCTCCT
XR_001747953.2:n.1557+1388_1557+1395delinsCCCCTCCT
XR_001747954.2:n.1404+2222_1404+2229delinsCCCCTCCT
XR_001748245.1:n.196+39_196+46delinsAGGAGGGG
XR_002957249.1:n.196+39_196+46delinsAGGAGGGG
NM_004183.4:c.948+108_948+115delinsCCCCTCCT MANE Select	NP_004174.1:n.948+108_948+115delinsCCCCTCCT
NM_001139443.2:c.768+108_768+115delinsCCCCTCCT	NP_001132915.1:n.768+108_768+115delinsCCCCTCCT
NM_001300786.2:c.688-206_688-199delinsCCCCTCCT	NP_001287715.1:n.688-206_688-199delinsCCCCTCCT
NM_001300787.2:c.768+108_768+115delinsCCCCTCCT	NP_001287716.1:n.768+108_768+115delinsCCCCTCCT
NM_001363591.2:c.630+108_630+115delinsCCCCTCCT	NP_001350520.1:n.630+108_630+115delinsCCCCTCCT
NM_001363593.2:c.-25+108_-25+115delinsCCCCTCCT	NP_001350522.1:n.-25+108_-25+115delinsCCCCTCCT
NR_134580.2:n.1264+108_1264+115delinsCCCCTCCT