Canonical Allele Identifier: CA1977534609

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959873_61959875delinsTTC , CM000673.2:g.61959873_61959875delinsTTC	GRCh38
NC_000011.9:g.61727345_61727347delinsTTC , CM000673.1:g.61727345_61727347delinsTTC	GRCh37
NC_000011.8:g.61483921_61483923delinsTTC	NCBI36
NG_009033.1:g.14990_14992delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-19_949-17delinsTTC (BEST1) MANE Select	ENSP00000367282.4:n.949-19_949-17delinsTTC
ENST00000378043.8:c.949-19_949-17delinsTTC (BEST1)	ENSP00000367282.4:n.949-19_949-17delinsTTC
ENST00000449131.6:c.769-19_769-17delinsTTC (BEST1)	ENSP00000399709.2:n.769-19_769-17delinsTTC
ENST00000524877.5:n.2580-19_2580-17delinsTTC (BEST1)
ENST00000524926.5:c.1152-19_1152-17delinsTTC (BEST1)	ENSP00000432681.1:n.1152-19_1152-17delinsTTC
ENST00000526988.1:c.834-19_834-17delinsTTC (BEST1)	ENSP00000433195.1:n.834-19_834-17delinsTTC
ENST00000529191.5:c.167_169delinsGAA (FTH1)	ENSP00000431659.1:p.Arg56=
ENST00000529631.5:c.144_146delinsGAA (FTH1)	ENSP00000431575.1:p.Gln48=
ENST00000530019.5:c.291_293delinsGAA (FTH1)	ENSP00000433470.1:p.Gln97=
ENST00000534553.5:c.164-2382_164-2380delinsTTC (BEST1)	ENSP00000431189.1:n.164-2382_164-2380delinsTTC
NM_001139443.1:c.769-19_769-17delinsTTC (BEST1)	NP_001132915.1:n.769-19_769-17delinsTTC
NM_001300786.1:c.688-19_688-17delinsTTC (BEST1)	NP_001287715.1:n.688-19_688-17delinsTTC
NM_001300787.1:c.769-19_769-17delinsTTC (BEST1)	NP_001287716.1:n.769-19_769-17delinsTTC
NM_004183.3:c.949-19_949-17delinsTTC (BEST1)	NP_004174.1:n.949-19_949-17delinsTTC
XM_005274210.2:c.949-19_949-17delinsTTC (BEST1)	XP_005274267.1:n.949-19_949-17delinsTTC
XM_005274215.2:c.631-19_631-17delinsTTC (BEST1)	XP_005274272.1:n.631-19_631-17delinsTTC
XM_005274216.2:c.972-19_972-17delinsTTC (BEST1)	XP_005274273.1:n.972-19_972-17delinsTTC
XM_005274218.3:c.834-19_834-17delinsTTC (BEST1)	XP_005274275.1:n.834-19_834-17delinsTTC
XM_005274219.2:c.867+1575_867+1577delinsTTC (BEST1)	XP_005274276.1:n.867+1575_867+1577delinsTTC
XM_005274221.2:c.715-2382_715-2380delinsTTC (BEST1)	XP_005274278.1:n.715-2382_715-2380delinsTTC
XM_011545229.1:c.949-19_949-17delinsTTC (BEST1)	XP_011543531.1:n.949-19_949-17delinsTTC
XM_011545230.1:c.856-19_856-17delinsTTC (BEST1)	XP_011543532.1:n.856-19_856-17delinsTTC
XM_011545231.1:c.631-19_631-17delinsTTC (BEST1)	XP_011543533.1:n.631-19_631-17delinsTTC
XM_011545232.1:c.1152-19_1152-17delinsTTC (BEST1)	XP_011543534.1:n.1152-19_1152-17delinsTTC
XM_011545233.1:c.106-19_106-17delinsTTC (BEST1)	XP_011543535.1:n.106-19_106-17delinsTTC
NM_001363591.1:c.631-19_631-17delinsTTC (BEST1)	NP_001350520.1:n.631-19_631-17delinsTTC
NM_001363592.1:c.1152-19_1152-17delinsTTC (BEST1)	NP_001350521.1:n.1152-19_1152-17delinsTTC
NM_001363593.1:c.-24-19_-24-17delinsTTC (BEST1)	NP_001350522.1:n.-24-19_-24-17delinsTTC
NR_134580.1:n.1732-19_1732-17delinsTTC (BEST1)
XM_005274210.4:c.949-19_949-17delinsTTC (BEST1)	XP_005274267.1:n.949-19_949-17delinsTTC
XM_005274215.4:c.631-19_631-17delinsTTC (BEST1)	XP_005274272.1:n.631-19_631-17delinsTTC
XM_005274216.4:c.972-19_972-17delinsTTC (BEST1)	XP_005274273.1:n.972-19_972-17delinsTTC
XM_005274219.4:c.867+1575_867+1577delinsTTC (BEST1)	XP_005274276.1:n.867+1575_867+1577delinsTTC
XM_005274221.4:c.715-2382_715-2380delinsTTC (BEST1)	XP_005274278.1:n.715-2382_715-2380delinsTTC
XM_011545229.3:c.949-19_949-17delinsTTC (BEST1)	XP_011543531.1:n.949-19_949-17delinsTTC
XM_011545230.3:c.856-19_856-17delinsTTC (BEST1)	XP_011543532.1:n.856-19_856-17delinsTTC
XM_011545233.3:c.106-19_106-17delinsTTC (BEST1)	XP_011543535.1:n.106-19_106-17delinsTTC
XM_017018230.2:c.834-19_834-17delinsTTC (BEST1)	XP_016873719.1:n.834-19_834-17delinsTTC
XR_001747952.2:n.1650-19_1650-17delinsTTC (BEST1)
XR_001747953.2:n.1557+1575_1557+1577delinsTTC (BEST1)
XR_001747954.2:n.1405-2382_1405-2380delinsTTC (BEST1)
XR_001748245.1:n.53_55delinsGAA
XR_002957249.1:n.53_55delinsGAA
NM_004183.4:c.949-19_949-17delinsTTC (BEST1) MANE Select	NP_004174.1:n.949-19_949-17delinsTTC
NM_001139443.2:c.769-19_769-17delinsTTC (BEST1)	NP_001132915.1:n.769-19_769-17delinsTTC
NM_001300786.2:c.688-19_688-17delinsTTC (BEST1)	NP_001287715.1:n.688-19_688-17delinsTTC
NM_001300787.2:c.769-19_769-17delinsTTC (BEST1)	NP_001287716.1:n.769-19_769-17delinsTTC
NM_001363591.2:c.631-19_631-17delinsTTC (BEST1)	NP_001350520.1:n.631-19_631-17delinsTTC
NM_001363593.2:c.-24-19_-24-17delinsTTC (BEST1)	NP_001350522.1:n.-24-19_-24-17delinsTTC
NR_134580.2:n.1265-19_1265-17delinsTTC (BEST1)