Canonical Allele Identifier: CA2695214599

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959896_61959901del , CM000673.2:g.61959896_61959901del	GRCh38
NC_000011.9:g.61727368_61727373del , CM000673.1:g.61727368_61727373del	GRCh37
NC_000011.8:g.61483944_61483949del	NCBI36
NG_009033.1:g.15013_15018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.953_958del (BEST1) MANE Select	ENSP00000367282.4:p.Ser318_Leu319del
ENST00000378043.8:c.953_958del (BEST1)	ENSP00000367282.4:p.Ser318_Leu319del
ENST00000449131.6:c.773_778del (BEST1)	ENSP00000399709.2:p.Ser258_Leu259del
ENST00000524877.5:n.2584_2589del (BEST1)
ENST00000524926.5:c.1156_1161del (BEST1)	ENSP00000432681.1:p.Pro386_Cys387del
ENST00000526988.1:c.838_843del (BEST1)	ENSP00000433195.1:p.Pro280_Cys281del
ENST00000529191.5:c.144_149del (FTH1)	ENSP00000431659.1:p.Gln48_Gly49del
ENST00000529631.5:c.121_126del (FTH1)	ENSP00000431575.1:p.Gly41_Thr42del
ENST00000530019.5:c.268_273del (FTH1)	ENSP00000433470.1:p.Gly90_Thr91del
ENST00000534553.5:c.164-2359_164-2354del (BEST1)	ENSP00000431189.1:n.164-2359_164-2354del
NM_001139443.1:c.773_778del (BEST1)	NP_001132915.1:p.Ser258_Leu259del
NM_001300786.1:c.692_697del (BEST1)	NP_001287715.1:p.Ser231_Leu232del
NM_001300787.1:c.773_778del (BEST1)	NP_001287716.1:p.Ser258_Leu259del
NM_004183.3:c.953_958del (BEST1)	NP_004174.1:p.Ser318_Leu319del
XM_005274210.2:c.953_958del (BEST1)	XP_005274267.1:p.Ser318_Leu319del
XM_005274215.2:c.635_640del (BEST1)	XP_005274272.1:p.Ser212_Leu213del
XM_005274216.2:c.976_981del (BEST1)	XP_005274273.1:p.Pro326_Cys327del
XM_005274218.3:c.838_843del (BEST1)	XP_005274275.1:p.Pro280_Cys281del
XM_005274219.2:c.867+1598_867+1603del (BEST1)	XP_005274276.1:n.867+1598_867+1603del
XM_005274221.2:c.715-2359_715-2354del (BEST1)	XP_005274278.1:n.715-2359_715-2354del
XM_011545229.1:c.953_958del (BEST1)	XP_011543531.1:p.Ser318_Leu319del
XM_011545230.1:c.860_865del (BEST1)	XP_011543532.1:p.Ser287_Leu288del
XM_011545231.1:c.635_640del (BEST1)	XP_011543533.1:p.Ser212_Leu213del
XM_011545232.1:c.1156_1161del (BEST1)	XP_011543534.1:p.Pro386_Cys387del
XM_011545233.1:c.110_115del (BEST1)	XP_011543535.1:p.Ser37_Leu38del
NM_001363591.1:c.635_640del (BEST1)	NP_001350520.1:p.Ser212_Leu213del
NM_001363592.1:c.1156_1161del (BEST1)	NP_001350521.1:p.Pro386_Cys387del
NM_001363593.1:c.-20_-15del (BEST1)	NP_001350522.1:n.-20_-15del
NR_134580.1:n.1736_1741del (BEST1)
XM_005274210.4:c.953_958del (BEST1)	XP_005274267.1:p.Ser318_Leu319del
XM_005274215.4:c.635_640del (BEST1)	XP_005274272.1:p.Ser212_Leu213del
XM_005274216.4:c.976_981del (BEST1)	XP_005274273.1:p.Pro326_Cys327del
XM_005274219.4:c.867+1598_867+1603del (BEST1)	XP_005274276.1:n.867+1598_867+1603del
XM_005274221.4:c.715-2359_715-2354del (BEST1)	XP_005274278.1:n.715-2359_715-2354del
XM_011545229.3:c.953_958del (BEST1)	XP_011543531.1:p.Ser318_Leu319del
XM_011545230.3:c.860_865del (BEST1)	XP_011543532.1:p.Ser287_Leu288del
XM_011545233.3:c.110_115del (BEST1)	XP_011543535.1:p.Ser37_Leu38del
XM_017018230.2:c.838_843del (BEST1)	XP_016873719.1:p.Pro280_Cys281del
XR_001747952.2:n.1654_1659del (BEST1)
XR_001747953.2:n.1557+1598_1557+1603del (BEST1)
XR_001747954.2:n.1405-2359_1405-2354del (BEST1)
XR_001748245.1:n.30_35del
XR_002957249.1:n.30_35del
NM_004183.4:c.953_958del (BEST1) MANE Select	NP_004174.1:p.Ser318_Leu319del
NM_001139443.2:c.773_778del (BEST1)	NP_001132915.1:p.Ser258_Leu259del
NM_001300786.2:c.692_697del (BEST1)	NP_001287715.1:p.Ser231_Leu232del
NM_001300787.2:c.773_778del (BEST1)	NP_001287716.1:p.Ser258_Leu259del
NM_001363591.2:c.635_640del (BEST1)	NP_001350520.1:p.Ser212_Leu213del
NM_001363593.2:c.-20_-15del (BEST1)	NP_001350522.1:n.-20_-15del
NR_134580.2:n.1269_1274del (BEST1)