Canonical Allele Identifier: CA2792335829

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959732_61959733insAGA , CM000673.2:g.61959732_61959733insAGA	GRCh38
NC_000011.9:g.61727204_61727205insAGA , CM000673.1:g.61727204_61727205insAGA	GRCh37
NC_000011.8:g.61483780_61483781insAGA	NCBI36
NG_009033.1:g.14849_14850insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.948+154_948+155insAGA (BEST1) MANE Select	ENSP00000367282.4:n.948+154_948+155insAGA
ENST00000378043.8:c.948+154_948+155insAGA (BEST1)	ENSP00000367282.4:n.948+154_948+155insAGA
ENST00000449131.6:c.768+154_768+155insAGA (BEST1)	ENSP00000399709.2:n.768+154_768+155insAGA
ENST00000524877.5:n.2579+154_2579+155insAGA (BEST1)
ENST00000524926.5:c.1151+154_1151+155insAGA (BEST1)	ENSP00000432681.1:n.1151+154_1151+155insAGA
ENST00000526988.1:c.833+154_833+155insAGA (BEST1)	ENSP00000433195.1:n.833+154_833+155insAGA
ENST00000529191.5:c.309_*1insTCT (FTH1)	ENSP00000431659.1:n.309_*1insTCT
ENST00000529631.5:c.*40_*41insTCT (FTH1)	ENSP00000431575.1:n.*40_*41insTCT
ENST00000534553.5:c.164-2523_164-2522insAGA (BEST1)	ENSP00000431189.1:n.164-2523_164-2522insAGA
NM_001139443.1:c.768+154_768+155insAGA (BEST1)	NP_001132915.1:n.768+154_768+155insAGA
NM_001300786.1:c.688-160_688-159insAGA (BEST1)	NP_001287715.1:n.688-160_688-159insAGA
NM_001300787.1:c.768+154_768+155insAGA (BEST1)	NP_001287716.1:n.768+154_768+155insAGA
NM_004183.3:c.948+154_948+155insAGA (BEST1)	NP_004174.1:n.948+154_948+155insAGA
XM_005274210.2:c.948+154_948+155insAGA (BEST1)	XP_005274267.1:n.948+154_948+155insAGA
XM_005274215.2:c.630+154_630+155insAGA (BEST1)	XP_005274272.1:n.630+154_630+155insAGA
XM_005274216.2:c.971+154_971+155insAGA (BEST1)	XP_005274273.1:n.971+154_971+155insAGA
XM_005274218.3:c.833+154_833+155insAGA (BEST1)	XP_005274275.1:n.833+154_833+155insAGA
XM_005274219.2:c.867+1434_867+1435insAGA (BEST1)	XP_005274276.1:n.867+1434_867+1435insAGA
XM_005274221.2:c.714+2268_714+2269insAGA (BEST1)	XP_005274278.1:n.714+2268_714+2269insAGA
XM_011545229.1:c.948+154_948+155insAGA (BEST1)	XP_011543531.1:n.948+154_948+155insAGA
XM_011545230.1:c.855+154_855+155insAGA (BEST1)	XP_011543532.1:n.855+154_855+155insAGA
XM_011545231.1:c.630+154_630+155insAGA (BEST1)	XP_011543533.1:n.630+154_630+155insAGA
XM_011545232.1:c.1151+154_1151+155insAGA (BEST1)	XP_011543534.1:n.1151+154_1151+155insAGA
XM_011545233.1:c.105+154_105+155insAGA (BEST1)	XP_011543535.1:n.105+154_105+155insAGA
NM_001363591.1:c.630+154_630+155insAGA (BEST1)	NP_001350520.1:n.630+154_630+155insAGA
NM_001363592.1:c.1151+154_1151+155insAGA (BEST1)	NP_001350521.1:n.1151+154_1151+155insAGA
NM_001363593.1:c.-25+154_-25+155insAGA (BEST1)	NP_001350522.1:n.-25+154_-25+155insAGA
NR_134580.1:n.1731+154_1731+155insAGA (BEST1)
XM_005274210.4:c.948+154_948+155insAGA (BEST1)	XP_005274267.1:n.948+154_948+155insAGA
XM_005274215.4:c.630+154_630+155insAGA (BEST1)	XP_005274272.1:n.630+154_630+155insAGA
XM_005274216.4:c.971+154_971+155insAGA (BEST1)	XP_005274273.1:n.971+154_971+155insAGA
XM_005274219.4:c.867+1434_867+1435insAGA (BEST1)	XP_005274276.1:n.867+1434_867+1435insAGA
XM_005274221.4:c.714+2268_714+2269insAGA (BEST1)	XP_005274278.1:n.714+2268_714+2269insAGA
XM_011545229.3:c.948+154_948+155insAGA (BEST1)	XP_011543531.1:n.948+154_948+155insAGA
XM_011545230.3:c.855+154_855+155insAGA (BEST1)	XP_011543532.1:n.855+154_855+155insAGA
XM_011545233.3:c.105+154_105+155insAGA (BEST1)	XP_011543535.1:n.105+154_105+155insAGA
XM_017018230.2:c.833+154_833+155insAGA (BEST1)	XP_016873719.1:n.833+154_833+155insAGA
XR_001747952.2:n.1649+154_1649+155insAGA (BEST1)
XR_001747953.2:n.1557+1434_1557+1435insAGA (BEST1)
XR_001747954.2:n.1404+2268_1404+2269insAGA (BEST1)
XR_001748245.1:n.195_196insTCT
XR_002957249.1:n.195_196insTCT
NM_004183.4:c.948+154_948+155insAGA (BEST1) MANE Select	NP_004174.1:n.948+154_948+155insAGA
NM_001139443.2:c.768+154_768+155insAGA (BEST1)	NP_001132915.1:n.768+154_768+155insAGA
NM_001300786.2:c.688-160_688-159insAGA (BEST1)	NP_001287715.1:n.688-160_688-159insAGA
NM_001300787.2:c.768+154_768+155insAGA (BEST1)	NP_001287716.1:n.768+154_768+155insAGA
NM_001363591.2:c.630+154_630+155insAGA (BEST1)	NP_001350520.1:n.630+154_630+155insAGA
NM_001363593.2:c.-25+154_-25+155insAGA (BEST1)	NP_001350522.1:n.-25+154_-25+155insAGA
NR_134580.2:n.1264+154_1264+155insAGA (BEST1)