Canonical Allele Identifier: CA6040949

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs373015881
• ExAC: 11:61727340 ACTT / A
• gnomAD v2: 11-61727340-ACTT-A
• gnomAD v3: 11-61959868-ACTT-A
• gnomAD v4: 11-61959868-ACTT-A
• MyVariant Identifiers: chr11:g.61727341_61727343del (hg19) ; chr11:g.61959870_61959872del (hg38) ; chr11:g.61959869_61959871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959874_61959876del , CM000673.2:g.61959874_61959876del	GRCh38
NC_000011.9:g.61727346_61727348del , CM000673.1:g.61727346_61727348del	GRCh37
NC_000011.8:g.61483922_61483924del	NCBI36
NG_009033.1:g.14991_14993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-18_949-16del (BEST1) MANE Select	ENSP00000367282.4:n.949-18_949-16del
ENST00000378043.8:c.949-18_949-16del (BEST1)	ENSP00000367282.4:n.949-18_949-16del
ENST00000449131.6:c.769-18_769-16del (BEST1)	ENSP00000399709.2:n.769-18_769-16del
ENST00000524877.5:n.2580-18_2580-16del (BEST1)
ENST00000524926.5:c.1152-18_1152-16del (BEST1)	ENSP00000432681.1:n.1152-18_1152-16del
ENST00000526988.1:c.834-18_834-16del (BEST1)	ENSP00000433195.1:n.834-18_834-16del
ENST00000529191.5:c.171_173del (FTH1)	ENSP00000431659.1:p.Arg57del
ENST00000529631.5:c.148_150del (FTH1)	ENSP00000431575.1:p.Lys50del
ENST00000530019.5:c.295_297del (FTH1)	ENSP00000433470.1:p.Lys99del
ENST00000534553.5:c.164-2381_164-2379del (BEST1)	ENSP00000431189.1:n.164-2381_164-2379del
NM_001139443.1:c.769-18_769-16del (BEST1)	NP_001132915.1:n.769-18_769-16del
NM_001300786.1:c.688-18_688-16del (BEST1)	NP_001287715.1:n.688-18_688-16del
NM_001300787.1:c.769-18_769-16del (BEST1)	NP_001287716.1:n.769-18_769-16del
NM_004183.3:c.949-18_949-16del (BEST1)	NP_004174.1:n.949-18_949-16del
XM_005274210.2:c.949-18_949-16del (BEST1)	XP_005274267.1:n.949-18_949-16del
XM_005274215.2:c.631-18_631-16del (BEST1)	XP_005274272.1:n.631-18_631-16del
XM_005274216.2:c.972-18_972-16del (BEST1)	XP_005274273.1:n.972-18_972-16del
XM_005274218.3:c.834-18_834-16del (BEST1)	XP_005274275.1:n.834-18_834-16del
XM_005274219.2:c.867+1576_867+1578del (BEST1)	XP_005274276.1:n.867+1576_867+1578del
XM_005274221.2:c.715-2381_715-2379del (BEST1)	XP_005274278.1:n.715-2381_715-2379del
XM_011545229.1:c.949-18_949-16del (BEST1)	XP_011543531.1:n.949-18_949-16del
XM_011545230.1:c.856-18_856-16del (BEST1)	XP_011543532.1:n.856-18_856-16del
XM_011545231.1:c.631-18_631-16del (BEST1)	XP_011543533.1:n.631-18_631-16del
XM_011545232.1:c.1152-18_1152-16del (BEST1)	XP_011543534.1:n.1152-18_1152-16del
XM_011545233.1:c.106-18_106-16del (BEST1)	XP_011543535.1:n.106-18_106-16del
NM_001363591.1:c.631-18_631-16del (BEST1)	NP_001350520.1:n.631-18_631-16del
NM_001363592.1:c.1152-18_1152-16del (BEST1)	NP_001350521.1:n.1152-18_1152-16del
NM_001363593.1:c.-24-18_-24-16del (BEST1)	NP_001350522.1:n.-24-18_-24-16del
NR_134580.1:n.1732-18_1732-16del (BEST1)
XM_005274210.4:c.949-18_949-16del (BEST1)	XP_005274267.1:n.949-18_949-16del
XM_005274215.4:c.631-18_631-16del (BEST1)	XP_005274272.1:n.631-18_631-16del
XM_005274216.4:c.972-18_972-16del (BEST1)	XP_005274273.1:n.972-18_972-16del
XM_005274219.4:c.867+1576_867+1578del (BEST1)	XP_005274276.1:n.867+1576_867+1578del
XM_005274221.4:c.715-2381_715-2379del (BEST1)	XP_005274278.1:n.715-2381_715-2379del
XM_011545229.3:c.949-18_949-16del (BEST1)	XP_011543531.1:n.949-18_949-16del
XM_011545230.3:c.856-18_856-16del (BEST1)	XP_011543532.1:n.856-18_856-16del
XM_011545233.3:c.106-18_106-16del (BEST1)	XP_011543535.1:n.106-18_106-16del
XM_017018230.2:c.834-18_834-16del (BEST1)	XP_016873719.1:n.834-18_834-16del
XR_001747952.2:n.1650-18_1650-16del (BEST1)
XR_001747953.2:n.1557+1576_1557+1578del (BEST1)
XR_001747954.2:n.1405-2381_1405-2379del (BEST1)
XR_001748245.1:n.57_59del
XR_002957249.1:n.57_59del
NM_004183.4:c.949-18_949-16del (BEST1) MANE Select	NP_004174.1:n.949-18_949-16del
NM_001139443.2:c.769-18_769-16del (BEST1)	NP_001132915.1:n.769-18_769-16del
NM_001300786.2:c.688-18_688-16del (BEST1)	NP_001287715.1:n.688-18_688-16del
NM_001300787.2:c.769-18_769-16del (BEST1)	NP_001287716.1:n.769-18_769-16del
NM_001363591.2:c.631-18_631-16del (BEST1)	NP_001350520.1:n.631-18_631-16del
NM_001363593.2:c.-24-18_-24-16del (BEST1)	NP_001350522.1:n.-24-18_-24-16del
NR_134580.2:n.1265-18_1265-16del (BEST1)