Canonical Allele Identifier: CA1977534889

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960005_61960008delinsCCGT , CM000673.2:g.61960005_61960008delinsCCGT	GRCh38
NC_000011.9:g.61727477_61727480delinsCCGT , CM000673.1:g.61727477_61727480delinsCCGT	GRCh37
NC_000011.8:g.61484053_61484056delinsCCGT	NCBI36
NG_009033.1:g.15122_15125delinsCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1062_1065delinsCCGT (BEST1) MANE Select	ENSP00000367282.4:p.Phe354=
ENST00000378043.8:c.1062_1065delinsCCGT (BEST1)	ENSP00000367282.4:p.Phe354=
ENST00000449131.6:c.882_885delinsCCGT (BEST1)	ENSP00000399709.2:p.Phe294=
ENST00000524877.5:n.2693_2696delinsCCGT (BEST1)
ENST00000524926.5:c.1265_1268delinsCCGT (BEST1)	ENSP00000432681.1:p.Ser422=
ENST00000526988.1:c.947_950delinsCCGT (BEST1)	ENSP00000433195.1:p.Ser316=
ENST00000529191.5:c.115-81_115-78delinsACGG (FTH1)	ENSP00000431659.1:n.115-81_115-78delinsACGG
ENST00000529631.5:c.115-104_115-101delinsACGG (FTH1)	ENSP00000431575.1:n.115-104_115-101delinsACGG
ENST00000530019.5:c.262-104_262-101delinsACGG (FTH1)	ENSP00000433470.1:n.262-104_262-101delinsACGG
ENST00000534553.5:c.164-2250_164-2247delinsCCGT (BEST1)	ENSP00000431189.1:n.164-2250_164-2247delinsCCGT
NM_001139443.1:c.882_885delinsCCGT (BEST1)	NP_001132915.1:p.Phe294=
NM_001300786.1:c.801_804delinsCCGT (BEST1)	NP_001287715.1:p.Phe267=
NM_001300787.1:c.882_885delinsCCGT (BEST1)	NP_001287716.1:p.Phe294=
NM_004183.3:c.1062_1065delinsCCGT (BEST1)	NP_004174.1:p.Phe354=
XM_005274210.2:c.1062_1065delinsCCGT (BEST1)	XP_005274267.1:p.Phe354=
XM_005274215.2:c.744_747delinsCCGT (BEST1)	XP_005274272.1:p.Phe248=
XM_005274216.2:c.1085_1088delinsCCGT (BEST1)	XP_005274273.1:p.Ser362=
XM_005274218.3:c.947_950delinsCCGT (BEST1)	XP_005274275.1:p.Ser316=
XM_005274219.2:c.867+1707_867+1710delinsCCGT (BEST1)	XP_005274276.1:n.867+1707_867+1710delinsCCGT
XM_005274221.2:c.715-2250_715-2247delinsCCGT (BEST1)	XP_005274278.1:n.715-2250_715-2247delinsCCGT
XM_011545229.1:c.1062_1065delinsCCGT (BEST1)	XP_011543531.1:p.Phe354=
XM_011545230.1:c.969_972delinsCCGT (BEST1)	XP_011543532.1:p.Phe323=
XM_011545231.1:c.744_747delinsCCGT (BEST1)	XP_011543533.1:p.Phe248=
XM_011545232.1:c.1265_1268delinsCCGT (BEST1)	XP_011543534.1:p.Ser422=
XM_011545233.1:c.219_222delinsCCGT (BEST1)	XP_011543535.1:p.Phe73=
NM_001363591.1:c.744_747delinsCCGT (BEST1)	NP_001350520.1:p.Phe248=
NM_001363592.1:c.1265_1268delinsCCGT (BEST1)	NP_001350521.1:p.Ser422=
NM_001363593.1:c.90_93delinsCCGT (BEST1)	NP_001350522.1:p.Phe30=
NR_134580.1:n.1845_1848delinsCCGT (BEST1)
XM_005274210.4:c.1062_1065delinsCCGT (BEST1)	XP_005274267.1:p.Phe354=
XM_005274215.4:c.744_747delinsCCGT (BEST1)	XP_005274272.1:p.Phe248=
XM_005274216.4:c.1085_1088delinsCCGT (BEST1)	XP_005274273.1:p.Ser362=
XM_005274219.4:c.867+1707_867+1710delinsCCGT (BEST1)	XP_005274276.1:n.867+1707_867+1710delinsCCGT
XM_005274221.4:c.715-2250_715-2247delinsCCGT (BEST1)	XP_005274278.1:n.715-2250_715-2247delinsCCGT
XM_011545229.3:c.1062_1065delinsCCGT (BEST1)	XP_011543531.1:p.Phe354=
XM_011545230.3:c.969_972delinsCCGT (BEST1)	XP_011543532.1:p.Phe323=
XM_011545233.3:c.219_222delinsCCGT (BEST1)	XP_011543535.1:p.Phe73=
XM_017018230.2:c.947_950delinsCCGT (BEST1)	XP_016873719.1:p.Ser316=
XR_001747952.2:n.1763_1766delinsCCGT (BEST1)
XR_001747953.2:n.1557+1707_1557+1710delinsCCGT (BEST1)
XR_001747954.2:n.1405-2250_1405-2247delinsCCGT (BEST1)
NM_004183.4:c.1062_1065delinsCCGT (BEST1) MANE Select	NP_004174.1:p.Phe354=
NM_001139443.2:c.882_885delinsCCGT (BEST1)	NP_001132915.1:p.Phe294=
NM_001300786.2:c.801_804delinsCCGT (BEST1)	NP_001287715.1:p.Phe267=
NM_001300787.2:c.882_885delinsCCGT (BEST1)	NP_001287716.1:p.Phe294=
NM_001363591.2:c.744_747delinsCCGT (BEST1)	NP_001350520.1:p.Phe248=
NM_001363593.2:c.90_93delinsCCGT (BEST1)	NP_001350522.1:p.Phe30=
NR_134580.2:n.1378_1381delinsCCGT (BEST1)