Canonical Allele Identifier: CA1977534496

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959796_61959798delinsCAG , CM000673.2:g.61959796_61959798delinsCAG	GRCh38
NC_000011.9:g.61727268_61727270delinsCAG , CM000673.1:g.61727268_61727270delinsCAG	GRCh37
NC_000011.8:g.61483844_61483846delinsCAG	NCBI36
NG_009033.1:g.14913_14915delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.949-96_949-94delinsCAG (BEST1) MANE Select	ENSP00000367282.4:n.949-96_949-94delinsCAG
ENST00000378043.8:c.949-96_949-94delinsCAG (BEST1)	ENSP00000367282.4:n.949-96_949-94delinsCAG
ENST00000449131.6:c.769-96_769-94delinsCAG (BEST1)	ENSP00000399709.2:n.769-96_769-94delinsCAG
ENST00000524877.5:n.2580-96_2580-94delinsCAG (BEST1)
ENST00000524926.5:c.1152-96_1152-94delinsCAG (BEST1)	ENSP00000432681.1:n.1152-96_1152-94delinsCAG
ENST00000526988.1:c.834-96_834-94delinsCAG (BEST1)	ENSP00000433195.1:n.834-96_834-94delinsCAG
ENST00000529191.5:c.244_246delinsCTG (FTH1)	ENSP00000431659.1:p.Leu82=
ENST00000529631.5:c.221_223delinsCTG (FTH1)	ENSP00000431575.1:p.Ser74=
ENST00000534553.5:c.164-2459_164-2457delinsCAG (BEST1)	ENSP00000431189.1:n.164-2459_164-2457delinsCAG
NM_001139443.1:c.769-96_769-94delinsCAG (BEST1)	NP_001132915.1:n.769-96_769-94delinsCAG
NM_001300786.1:c.688-96_688-94delinsCAG (BEST1)	NP_001287715.1:n.688-96_688-94delinsCAG
NM_001300787.1:c.769-96_769-94delinsCAG (BEST1)	NP_001287716.1:n.769-96_769-94delinsCAG
NM_004183.3:c.949-96_949-94delinsCAG (BEST1)	NP_004174.1:n.949-96_949-94delinsCAG
XM_005274210.2:c.949-96_949-94delinsCAG (BEST1)	XP_005274267.1:n.949-96_949-94delinsCAG
XM_005274215.2:c.631-96_631-94delinsCAG (BEST1)	XP_005274272.1:n.631-96_631-94delinsCAG
XM_005274216.2:c.972-96_972-94delinsCAG (BEST1)	XP_005274273.1:n.972-96_972-94delinsCAG
XM_005274218.3:c.834-96_834-94delinsCAG (BEST1)	XP_005274275.1:n.834-96_834-94delinsCAG
XM_005274219.2:c.867+1498_867+1500delinsCAG (BEST1)	XP_005274276.1:n.867+1498_867+1500delinsCAG
XM_005274221.2:c.714+2332_714+2334delinsCAG (BEST1)	XP_005274278.1:n.714+2332_714+2334delinsCAG
XM_011545229.1:c.949-96_949-94delinsCAG (BEST1)	XP_011543531.1:n.949-96_949-94delinsCAG
XM_011545230.1:c.856-96_856-94delinsCAG (BEST1)	XP_011543532.1:n.856-96_856-94delinsCAG
XM_011545231.1:c.631-96_631-94delinsCAG (BEST1)	XP_011543533.1:n.631-96_631-94delinsCAG
XM_011545232.1:c.1152-96_1152-94delinsCAG (BEST1)	XP_011543534.1:n.1152-96_1152-94delinsCAG
XM_011545233.1:c.106-96_106-94delinsCAG (BEST1)	XP_011543535.1:n.106-96_106-94delinsCAG
NM_001363591.1:c.631-96_631-94delinsCAG (BEST1)	NP_001350520.1:n.631-96_631-94delinsCAG
NM_001363592.1:c.1152-96_1152-94delinsCAG (BEST1)	NP_001350521.1:n.1152-96_1152-94delinsCAG
NM_001363593.1:c.-24-96_-24-94delinsCAG (BEST1)	NP_001350522.1:n.-24-96_-24-94delinsCAG
NR_134580.1:n.1732-96_1732-94delinsCAG (BEST1)
XM_005274210.4:c.949-96_949-94delinsCAG (BEST1)	XP_005274267.1:n.949-96_949-94delinsCAG
XM_005274215.4:c.631-96_631-94delinsCAG (BEST1)	XP_005274272.1:n.631-96_631-94delinsCAG
XM_005274216.4:c.972-96_972-94delinsCAG (BEST1)	XP_005274273.1:n.972-96_972-94delinsCAG
XM_005274219.4:c.867+1498_867+1500delinsCAG (BEST1)	XP_005274276.1:n.867+1498_867+1500delinsCAG
XM_005274221.4:c.714+2332_714+2334delinsCAG (BEST1)	XP_005274278.1:n.714+2332_714+2334delinsCAG
XM_011545229.3:c.949-96_949-94delinsCAG (BEST1)	XP_011543531.1:n.949-96_949-94delinsCAG
XM_011545230.3:c.856-96_856-94delinsCAG (BEST1)	XP_011543532.1:n.856-96_856-94delinsCAG
XM_011545233.3:c.106-96_106-94delinsCAG (BEST1)	XP_011543535.1:n.106-96_106-94delinsCAG
XM_017018230.2:c.834-96_834-94delinsCAG (BEST1)	XP_016873719.1:n.834-96_834-94delinsCAG
XR_001747952.2:n.1650-96_1650-94delinsCAG (BEST1)
XR_001747953.2:n.1557+1498_1557+1500delinsCAG (BEST1)
XR_001747954.2:n.1404+2332_1404+2334delinsCAG (BEST1)
XR_001748245.1:n.130_132delinsCTG
XR_002957249.1:n.130_132delinsCTG
NM_004183.4:c.949-96_949-94delinsCAG (BEST1) MANE Select	NP_004174.1:n.949-96_949-94delinsCAG
NM_001139443.2:c.769-96_769-94delinsCAG (BEST1)	NP_001132915.1:n.769-96_769-94delinsCAG
NM_001300786.2:c.688-96_688-94delinsCAG (BEST1)	NP_001287715.1:n.688-96_688-94delinsCAG
NM_001300787.2:c.769-96_769-94delinsCAG (BEST1)	NP_001287716.1:n.769-96_769-94delinsCAG
NM_001363591.2:c.631-96_631-94delinsCAG (BEST1)	NP_001350520.1:n.631-96_631-94delinsCAG
NM_001363593.2:c.-24-96_-24-94delinsCAG (BEST1)	NP_001350522.1:n.-24-96_-24-94delinsCAG
NR_134580.2:n.1265-96_1265-94delinsCAG (BEST1)