Canonical Allele Identifier: CA1977534853

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959987_61959996delinsAGCTGCTTCC , CM000673.2:g.61959987_61959996delinsAGCTGCTTCC	GRCh38
NC_000011.9:g.61727459_61727468delinsAGCTGCTTCC , CM000673.1:g.61727459_61727468delinsAGCTGCTTCC	GRCh37
NC_000011.8:g.61484035_61484044delinsAGCTGCTTCC	NCBI36
NG_009033.1:g.15104_15113delinsAGCTGCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1044_1053delinsAGCTGCTTCC (BEST1) MANE Select	ENSP00000367282.4:p.Thr348=
ENST00000378043.8:c.1044_1053delinsAGCTGCTTCC (BEST1)	ENSP00000367282.4:p.Thr348=
ENST00000449131.6:c.864_873delinsAGCTGCTTCC (BEST1)	ENSP00000399709.2:p.Thr288=
ENST00000524877.5:n.2675_2684delinsAGCTGCTTCC (BEST1)
ENST00000524926.5:c.1247_1256delinsAGCTGCTTCC (BEST1)	ENSP00000432681.1:p.Gln416=
ENST00000526988.1:c.929_938delinsAGCTGCTTCC (BEST1)	ENSP00000433195.1:p.Gln310=
ENST00000529191.5:c.115-69_115-60delinsGGAAGCAGCT (FTH1)	ENSP00000431659.1:n.115-69_115-60delinsGGAAGCAGCT
ENST00000529631.5:c.115-92_115-83delinsGGAAGCAGCT (FTH1)	ENSP00000431575.1:n.115-92_115-83delinsGGAAGCAGCT
ENST00000530019.5:c.262-92_262-83delinsGGAAGCAGCT (FTH1)	ENSP00000433470.1:n.262-92_262-83delinsGGAAGCAGCT
ENST00000534553.5:c.164-2268_164-2259delinsAGCTGCTTCC (BEST1)	ENSP00000431189.1:n.164-2268_164-2259delinsAGCTGCTTCC
NM_001139443.1:c.864_873delinsAGCTGCTTCC (BEST1)	NP_001132915.1:p.Thr288=
NM_001300786.1:c.783_792delinsAGCTGCTTCC (BEST1)	NP_001287715.1:p.Thr261=
NM_001300787.1:c.864_873delinsAGCTGCTTCC (BEST1)	NP_001287716.1:p.Thr288=
NM_004183.3:c.1044_1053delinsAGCTGCTTCC (BEST1)	NP_004174.1:p.Thr348=
XM_005274210.2:c.1044_1053delinsAGCTGCTTCC (BEST1)	XP_005274267.1:p.Thr348=
XM_005274215.2:c.726_735delinsAGCTGCTTCC (BEST1)	XP_005274272.1:p.Thr242=
XM_005274216.2:c.1067_1076delinsAGCTGCTTCC (BEST1)	XP_005274273.1:p.Gln356=
XM_005274218.3:c.929_938delinsAGCTGCTTCC (BEST1)	XP_005274275.1:p.Gln310=
XM_005274219.2:c.867+1689_867+1698delinsAGCTGCTTCC (BEST1)	XP_005274276.1:n.867+1689_867+1698delinsAGCTGCTTCC
XM_005274221.2:c.715-2268_715-2259delinsAGCTGCTTCC (BEST1)	XP_005274278.1:n.715-2268_715-2259delinsAGCTGCTTCC
XM_011545229.1:c.1044_1053delinsAGCTGCTTCC (BEST1)	XP_011543531.1:p.Thr348=
XM_011545230.1:c.951_960delinsAGCTGCTTCC (BEST1)	XP_011543532.1:p.Thr317=
XM_011545231.1:c.726_735delinsAGCTGCTTCC (BEST1)	XP_011543533.1:p.Thr242=
XM_011545232.1:c.1247_1256delinsAGCTGCTTCC (BEST1)	XP_011543534.1:p.Gln416=
XM_011545233.1:c.201_210delinsAGCTGCTTCC (BEST1)	XP_011543535.1:p.Thr67=
NM_001363591.1:c.726_735delinsAGCTGCTTCC (BEST1)	NP_001350520.1:p.Thr242=
NM_001363592.1:c.1247_1256delinsAGCTGCTTCC (BEST1)	NP_001350521.1:p.Gln416=
NM_001363593.1:c.72_81delinsAGCTGCTTCC (BEST1)	NP_001350522.1:p.Thr24=
NR_134580.1:n.1827_1836delinsAGCTGCTTCC (BEST1)
XM_005274210.4:c.1044_1053delinsAGCTGCTTCC (BEST1)	XP_005274267.1:p.Thr348=
XM_005274215.4:c.726_735delinsAGCTGCTTCC (BEST1)	XP_005274272.1:p.Thr242=
XM_005274216.4:c.1067_1076delinsAGCTGCTTCC (BEST1)	XP_005274273.1:p.Gln356=
XM_005274219.4:c.867+1689_867+1698delinsAGCTGCTTCC (BEST1)	XP_005274276.1:n.867+1689_867+1698delinsAGCTGCTTCC
XM_005274221.4:c.715-2268_715-2259delinsAGCTGCTTCC (BEST1)	XP_005274278.1:n.715-2268_715-2259delinsAGCTGCTTCC
XM_011545229.3:c.1044_1053delinsAGCTGCTTCC (BEST1)	XP_011543531.1:p.Thr348=
XM_011545230.3:c.951_960delinsAGCTGCTTCC (BEST1)	XP_011543532.1:p.Thr317=
XM_011545233.3:c.201_210delinsAGCTGCTTCC (BEST1)	XP_011543535.1:p.Thr67=
XM_017018230.2:c.929_938delinsAGCTGCTTCC (BEST1)	XP_016873719.1:p.Gln310=
XR_001747952.2:n.1745_1754delinsAGCTGCTTCC (BEST1)
XR_001747953.2:n.1557+1689_1557+1698delinsAGCTGCTTCC (BEST1)
XR_001747954.2:n.1405-2268_1405-2259delinsAGCTGCTTCC (BEST1)
NM_004183.4:c.1044_1053delinsAGCTGCTTCC (BEST1) MANE Select	NP_004174.1:p.Thr348=
NM_001139443.2:c.864_873delinsAGCTGCTTCC (BEST1)	NP_001132915.1:p.Thr288=
NM_001300786.2:c.783_792delinsAGCTGCTTCC (BEST1)	NP_001287715.1:p.Thr261=
NM_001300787.2:c.864_873delinsAGCTGCTTCC (BEST1)	NP_001287716.1:p.Thr288=
NM_001363591.2:c.726_735delinsAGCTGCTTCC (BEST1)	NP_001350520.1:p.Thr242=
NM_001363593.2:c.72_81delinsAGCTGCTTCC (BEST1)	NP_001350522.1:p.Thr24=
NR_134580.2:n.1360_1369delinsAGCTGCTTCC (BEST1)