Canonical Allele Identifier: CA1977534503

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959805_61959807delinsGGA , CM000673.2:g.61959805_61959807delinsGGA	GRCh38
NC_000011.9:g.61727277_61727279delinsGGA , CM000673.1:g.61727277_61727279delinsGGA	GRCh37
NC_000011.8:g.61483853_61483855delinsGGA	NCBI36
NG_009033.1:g.14922_14924delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-87_949-85delinsGGA (BEST1) MANE Select	ENSP00000367282.4:n.949-87_949-85delinsGGA
ENST00000378043.8:c.949-87_949-85delinsGGA (BEST1)	ENSP00000367282.4:n.949-87_949-85delinsGGA
ENST00000449131.6:c.769-87_769-85delinsGGA (BEST1)	ENSP00000399709.2:n.769-87_769-85delinsGGA
ENST00000524877.5:n.2580-87_2580-85delinsGGA (BEST1)
ENST00000524926.5:c.1152-87_1152-85delinsGGA (BEST1)	ENSP00000432681.1:n.1152-87_1152-85delinsGGA
ENST00000526988.1:c.834-87_834-85delinsGGA (BEST1)	ENSP00000433195.1:n.834-87_834-85delinsGGA
ENST00000529191.5:c.235_237delinsTCC (FTH1)	ENSP00000431659.1:p.Ser79=
ENST00000529631.5:c.212_214delinsTCC (FTH1)	ENSP00000431575.1:p.Leu71=
ENST00000534553.5:c.164-2450_164-2448delinsGGA (BEST1)	ENSP00000431189.1:n.164-2450_164-2448delinsGGA
NM_001139443.1:c.769-87_769-85delinsGGA (BEST1)	NP_001132915.1:n.769-87_769-85delinsGGA
NM_001300786.1:c.688-87_688-85delinsGGA (BEST1)	NP_001287715.1:n.688-87_688-85delinsGGA
NM_001300787.1:c.769-87_769-85delinsGGA (BEST1)	NP_001287716.1:n.769-87_769-85delinsGGA
NM_004183.3:c.949-87_949-85delinsGGA (BEST1)	NP_004174.1:n.949-87_949-85delinsGGA
XM_005274210.2:c.949-87_949-85delinsGGA (BEST1)	XP_005274267.1:n.949-87_949-85delinsGGA
XM_005274215.2:c.631-87_631-85delinsGGA (BEST1)	XP_005274272.1:n.631-87_631-85delinsGGA
XM_005274216.2:c.972-87_972-85delinsGGA (BEST1)	XP_005274273.1:n.972-87_972-85delinsGGA
XM_005274218.3:c.834-87_834-85delinsGGA (BEST1)	XP_005274275.1:n.834-87_834-85delinsGGA
XM_005274219.2:c.867+1507_867+1509delinsGGA (BEST1)	XP_005274276.1:n.867+1507_867+1509delinsGGA
XM_005274221.2:c.714+2341_714+2343delinsGGA (BEST1)	XP_005274278.1:n.714+2341_714+2343delinsGGA
XM_011545229.1:c.949-87_949-85delinsGGA (BEST1)	XP_011543531.1:n.949-87_949-85delinsGGA
XM_011545230.1:c.856-87_856-85delinsGGA (BEST1)	XP_011543532.1:n.856-87_856-85delinsGGA
XM_011545231.1:c.631-87_631-85delinsGGA (BEST1)	XP_011543533.1:n.631-87_631-85delinsGGA
XM_011545232.1:c.1152-87_1152-85delinsGGA (BEST1)	XP_011543534.1:n.1152-87_1152-85delinsGGA
XM_011545233.1:c.106-87_106-85delinsGGA (BEST1)	XP_011543535.1:n.106-87_106-85delinsGGA
NM_001363591.1:c.631-87_631-85delinsGGA (BEST1)	NP_001350520.1:n.631-87_631-85delinsGGA
NM_001363592.1:c.1152-87_1152-85delinsGGA (BEST1)	NP_001350521.1:n.1152-87_1152-85delinsGGA
NM_001363593.1:c.-24-87_-24-85delinsGGA (BEST1)	NP_001350522.1:n.-24-87_-24-85delinsGGA
NR_134580.1:n.1732-87_1732-85delinsGGA (BEST1)
XM_005274210.4:c.949-87_949-85delinsGGA (BEST1)	XP_005274267.1:n.949-87_949-85delinsGGA
XM_005274215.4:c.631-87_631-85delinsGGA (BEST1)	XP_005274272.1:n.631-87_631-85delinsGGA
XM_005274216.4:c.972-87_972-85delinsGGA (BEST1)	XP_005274273.1:n.972-87_972-85delinsGGA
XM_005274219.4:c.867+1507_867+1509delinsGGA (BEST1)	XP_005274276.1:n.867+1507_867+1509delinsGGA
XM_005274221.4:c.714+2341_714+2343delinsGGA (BEST1)	XP_005274278.1:n.714+2341_714+2343delinsGGA
XM_011545229.3:c.949-87_949-85delinsGGA (BEST1)	XP_011543531.1:n.949-87_949-85delinsGGA
XM_011545230.3:c.856-87_856-85delinsGGA (BEST1)	XP_011543532.1:n.856-87_856-85delinsGGA
XM_011545233.3:c.106-87_106-85delinsGGA (BEST1)	XP_011543535.1:n.106-87_106-85delinsGGA
XM_017018230.2:c.834-87_834-85delinsGGA (BEST1)	XP_016873719.1:n.834-87_834-85delinsGGA
XR_001747952.2:n.1650-87_1650-85delinsGGA (BEST1)
XR_001747953.2:n.1557+1507_1557+1509delinsGGA (BEST1)
XR_001747954.2:n.1404+2341_1404+2343delinsGGA (BEST1)
XR_001748245.1:n.121_123delinsTCC
XR_002957249.1:n.121_123delinsTCC
NM_004183.4:c.949-87_949-85delinsGGA (BEST1) MANE Select	NP_004174.1:n.949-87_949-85delinsGGA
NM_001139443.2:c.769-87_769-85delinsGGA (BEST1)	NP_001132915.1:n.769-87_769-85delinsGGA
NM_001300786.2:c.688-87_688-85delinsGGA (BEST1)	NP_001287715.1:n.688-87_688-85delinsGGA
NM_001300787.2:c.769-87_769-85delinsGGA (BEST1)	NP_001287716.1:n.769-87_769-85delinsGGA
NM_001363591.2:c.631-87_631-85delinsGGA (BEST1)	NP_001350520.1:n.631-87_631-85delinsGGA
NM_001363593.2:c.-24-87_-24-85delinsGGA (BEST1)	NP_001350522.1:n.-24-87_-24-85delinsGGA
NR_134580.2:n.1265-87_1265-85delinsGGA (BEST1)