Canonical Allele Identifier: CA1977534595

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959869_61959870delinsCT , CM000673.2:g.61959869_61959870delinsCT	GRCh38
NC_000011.9:g.61727341_61727342delinsCT , CM000673.1:g.61727341_61727342delinsCT	GRCh37
NC_000011.8:g.61483917_61483918delinsCT	NCBI36
NG_009033.1:g.14986_14987delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-23_949-22delinsCT (BEST1) MANE Select	ENSP00000367282.4:n.949-23_949-22delinsCT
ENST00000378043.8:c.949-23_949-22delinsCT (BEST1)	ENSP00000367282.4:n.949-23_949-22delinsCT
ENST00000449131.6:c.769-23_769-22delinsCT (BEST1)	ENSP00000399709.2:n.769-23_769-22delinsCT
ENST00000524877.5:n.2580-23_2580-22delinsCT (BEST1)
ENST00000524926.5:c.1152-23_1152-22delinsCT (BEST1)	ENSP00000432681.1:n.1152-23_1152-22delinsCT
ENST00000526988.1:c.834-23_834-22delinsCT (BEST1)	ENSP00000433195.1:n.834-23_834-22delinsCT
ENST00000529191.5:c.172_173delinsAG (FTH1)	ENSP00000431659.1:p.Ser58=
ENST00000529631.5:c.149_150delinsAG (FTH1)	ENSP00000431575.1:p.Lys50=
ENST00000530019.5:c.296_297delinsAG (FTH1)	ENSP00000433470.1:p.Lys99=
ENST00000534553.5:c.164-2386_164-2385delinsCT (BEST1)	ENSP00000431189.1:n.164-2386_164-2385delinsCT
NM_001139443.1:c.769-23_769-22delinsCT (BEST1)	NP_001132915.1:n.769-23_769-22delinsCT
NM_001300786.1:c.688-23_688-22delinsCT (BEST1)	NP_001287715.1:n.688-23_688-22delinsCT
NM_001300787.1:c.769-23_769-22delinsCT (BEST1)	NP_001287716.1:n.769-23_769-22delinsCT
NM_004183.3:c.949-23_949-22delinsCT (BEST1)	NP_004174.1:n.949-23_949-22delinsCT
XM_005274210.2:c.949-23_949-22delinsCT (BEST1)	XP_005274267.1:n.949-23_949-22delinsCT
XM_005274215.2:c.631-23_631-22delinsCT (BEST1)	XP_005274272.1:n.631-23_631-22delinsCT
XM_005274216.2:c.972-23_972-22delinsCT (BEST1)	XP_005274273.1:n.972-23_972-22delinsCT
XM_005274218.3:c.834-23_834-22delinsCT (BEST1)	XP_005274275.1:n.834-23_834-22delinsCT
XM_005274219.2:c.867+1571_867+1572delinsCT (BEST1)	XP_005274276.1:n.867+1571_867+1572delinsCT
XM_005274221.2:c.715-2386_715-2385delinsCT (BEST1)	XP_005274278.1:n.715-2386_715-2385delinsCT
XM_011545229.1:c.949-23_949-22delinsCT (BEST1)	XP_011543531.1:n.949-23_949-22delinsCT
XM_011545230.1:c.856-23_856-22delinsCT (BEST1)	XP_011543532.1:n.856-23_856-22delinsCT
XM_011545231.1:c.631-23_631-22delinsCT (BEST1)	XP_011543533.1:n.631-23_631-22delinsCT
XM_011545232.1:c.1152-23_1152-22delinsCT (BEST1)	XP_011543534.1:n.1152-23_1152-22delinsCT
XM_011545233.1:c.106-23_106-22delinsCT (BEST1)	XP_011543535.1:n.106-23_106-22delinsCT
NM_001363591.1:c.631-23_631-22delinsCT (BEST1)	NP_001350520.1:n.631-23_631-22delinsCT
NM_001363592.1:c.1152-23_1152-22delinsCT (BEST1)	NP_001350521.1:n.1152-23_1152-22delinsCT
NM_001363593.1:c.-24-23_-24-22delinsCT (BEST1)	NP_001350522.1:n.-24-23_-24-22delinsCT
NR_134580.1:n.1732-23_1732-22delinsCT (BEST1)
XM_005274210.4:c.949-23_949-22delinsCT (BEST1)	XP_005274267.1:n.949-23_949-22delinsCT
XM_005274215.4:c.631-23_631-22delinsCT (BEST1)	XP_005274272.1:n.631-23_631-22delinsCT
XM_005274216.4:c.972-23_972-22delinsCT (BEST1)	XP_005274273.1:n.972-23_972-22delinsCT
XM_005274219.4:c.867+1571_867+1572delinsCT (BEST1)	XP_005274276.1:n.867+1571_867+1572delinsCT
XM_005274221.4:c.715-2386_715-2385delinsCT (BEST1)	XP_005274278.1:n.715-2386_715-2385delinsCT
XM_011545229.3:c.949-23_949-22delinsCT (BEST1)	XP_011543531.1:n.949-23_949-22delinsCT
XM_011545230.3:c.856-23_856-22delinsCT (BEST1)	XP_011543532.1:n.856-23_856-22delinsCT
XM_011545233.3:c.106-23_106-22delinsCT (BEST1)	XP_011543535.1:n.106-23_106-22delinsCT
XM_017018230.2:c.834-23_834-22delinsCT (BEST1)	XP_016873719.1:n.834-23_834-22delinsCT
XR_001747952.2:n.1650-23_1650-22delinsCT (BEST1)
XR_001747953.2:n.1557+1571_1557+1572delinsCT (BEST1)
XR_001747954.2:n.1405-2386_1405-2385delinsCT (BEST1)
XR_001748245.1:n.58_59delinsAG
XR_002957249.1:n.58_59delinsAG
NM_004183.4:c.949-23_949-22delinsCT (BEST1) MANE Select	NP_004174.1:n.949-23_949-22delinsCT
NM_001139443.2:c.769-23_769-22delinsCT (BEST1)	NP_001132915.1:n.769-23_769-22delinsCT
NM_001300786.2:c.688-23_688-22delinsCT (BEST1)	NP_001287715.1:n.688-23_688-22delinsCT
NM_001300787.2:c.769-23_769-22delinsCT (BEST1)	NP_001287716.1:n.769-23_769-22delinsCT
NM_001363591.2:c.631-23_631-22delinsCT (BEST1)	NP_001350520.1:n.631-23_631-22delinsCT
NM_001363593.2:c.-24-23_-24-22delinsCT (BEST1)	NP_001350522.1:n.-24-23_-24-22delinsCT
NR_134580.2:n.1265-23_1265-22delinsCT (BEST1)