Canonical Allele Identifier: CA2573053529

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 1310016
• ClinVar RCV Id: RCV001757084
• dbSNP Id: rs2134456362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960018_61960020delinsATA , CM000673.2:g.61960018_61960020delinsATA	GRCh38
NC_000011.9:g.61727490_61727492delinsATA , CM000673.1:g.61727490_61727492delinsATA	GRCh37
NC_000011.8:g.61484066_61484068delinsATA	NCBI36
NG_009033.1:g.15135_15137delinsATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1075_1077delinsATA (BEST1) MANE Select	ENSP00000367282.4:p.Phe359Ile
ENST00000378043.8:c.1075_1077delinsATA (BEST1)	ENSP00000367282.4:p.Phe359Ile
ENST00000449131.6:c.895_897delinsATA (BEST1)	ENSP00000399709.2:p.Phe299Ile
ENST00000524877.5:n.2706_2708delinsATA (BEST1)
ENST00000524926.5:c.1278_1280delinsATA (BEST1)	ENSP00000432681.1:p.Pro427Ter
ENST00000526988.1:c.960_962delinsATA (BEST1)	ENSP00000433195.1:p.Pro321Ter
ENST00000529191.5:c.115-93_115-91delinsTAT (FTH1)	ENSP00000431659.1:n.115-93_115-91delinsTAT
ENST00000529631.5:c.115-116_115-114delinsTAT (FTH1)	ENSP00000431575.1:n.115-116_115-114delinsTAT
ENST00000530019.5:c.262-116_262-114delinsTAT (FTH1)	ENSP00000433470.1:n.262-116_262-114delinsTAT
ENST00000534553.5:c.164-2237_164-2235delinsATA (BEST1)	ENSP00000431189.1:n.164-2237_164-2235delinsATA
NM_001139443.1:c.895_897delinsATA (BEST1)	NP_001132915.1:p.Phe299Ile
NM_001300786.1:c.814_816delinsATA (BEST1)	NP_001287715.1:p.Phe272Ile
NM_001300787.1:c.895_897delinsATA (BEST1)	NP_001287716.1:p.Phe299Ile
NM_004183.3:c.1075_1077delinsATA (BEST1)	NP_004174.1:p.Phe359Ile
XM_005274210.2:c.1075_1077delinsATA (BEST1)	XP_005274267.1:p.Phe359Ile
XM_005274215.2:c.757_759delinsATA (BEST1)	XP_005274272.1:p.Phe253Ile
XM_005274216.2:c.1098_1100delinsATA (BEST1)	XP_005274273.1:p.Pro367Ter
XM_005274218.3:c.960_962delinsATA (BEST1)	XP_005274275.1:p.Pro321Ter
XM_005274219.2:c.867+1720_867+1722delinsATA (BEST1)	XP_005274276.1:n.867+1720_867+1722delinsATA
XM_005274221.2:c.715-2237_715-2235delinsATA (BEST1)	XP_005274278.1:n.715-2237_715-2235delinsATA
XM_011545229.1:c.1075_1077delinsATA (BEST1)	XP_011543531.1:p.Phe359Ile
XM_011545230.1:c.982_984delinsATA (BEST1)	XP_011543532.1:p.Phe328Ile
XM_011545231.1:c.757_759delinsATA (BEST1)	XP_011543533.1:p.Phe253Ile
XM_011545232.1:c.1278_1280delinsATA (BEST1)	XP_011543534.1:p.Pro427Ter
XM_011545233.1:c.232_234delinsATA (BEST1)	XP_011543535.1:p.Phe78Ile
NM_001363591.1:c.757_759delinsATA (BEST1)	NP_001350520.1:p.Phe253Ile
NM_001363592.1:c.1278_1280delinsATA (BEST1)	NP_001350521.1:p.Pro427Ter
NM_001363593.1:c.103_105delinsATA (BEST1)	NP_001350522.1:p.Phe35Ile
NR_134580.1:n.1858_1860delinsATA (BEST1)
XM_005274210.4:c.1075_1077delinsATA (BEST1)	XP_005274267.1:p.Phe359Ile
XM_005274215.4:c.757_759delinsATA (BEST1)	XP_005274272.1:p.Phe253Ile
XM_005274216.4:c.1098_1100delinsATA (BEST1)	XP_005274273.1:p.Pro367Ter
XM_005274219.4:c.867+1720_867+1722delinsATA (BEST1)	XP_005274276.1:n.867+1720_867+1722delinsATA
XM_005274221.4:c.715-2237_715-2235delinsATA (BEST1)	XP_005274278.1:n.715-2237_715-2235delinsATA
XM_011545229.3:c.1075_1077delinsATA (BEST1)	XP_011543531.1:p.Phe359Ile
XM_011545230.3:c.982_984delinsATA (BEST1)	XP_011543532.1:p.Phe328Ile
XM_011545233.3:c.232_234delinsATA (BEST1)	XP_011543535.1:p.Phe78Ile
XM_017018230.2:c.960_962delinsATA (BEST1)	XP_016873719.1:p.Pro321Ter
XR_001747952.2:n.1776_1778delinsATA (BEST1)
XR_001747953.2:n.1557+1720_1557+1722delinsATA (BEST1)
XR_001747954.2:n.1405-2237_1405-2235delinsATA (BEST1)
NM_004183.4:c.1075_1077delinsATA (BEST1) MANE Select	NP_004174.1:p.Phe359Ile
NM_001139443.2:c.895_897delinsATA (BEST1)	NP_001132915.1:p.Phe299Ile
NM_001300786.2:c.814_816delinsATA (BEST1)	NP_001287715.1:p.Phe272Ile
NM_001300787.2:c.895_897delinsATA (BEST1)	NP_001287716.1:p.Phe299Ile
NM_001363591.2:c.757_759delinsATA (BEST1)	NP_001350520.1:p.Phe253Ile
NM_001363593.2:c.103_105delinsATA (BEST1)	NP_001350522.1:p.Phe35Ile
NR_134580.2:n.1391_1393delinsATA (BEST1)