Canonical Allele Identifier: CA2573147315

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 1517426
• ClinVar RCV Id: RCV002041079
• dbSNP Id: rs2134455849

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959957_61959958delinsCT , CM000673.2:g.61959957_61959958delinsCT	GRCh38
NC_000011.9:g.61727429_61727430delinsCT , CM000673.1:g.61727429_61727430delinsCT	GRCh37
NC_000011.8:g.61484005_61484006delinsCT	NCBI36
NG_009033.1:g.15074_15075delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1014_1015delinsCT (BEST1) MANE Select	ENSP00000367282.4:p.Trp338_Asn339delinsCysTyr
ENST00000378043.8:c.1014_1015delinsCT (BEST1)	ENSP00000367282.4:p.Trp338_Asn339delinsCysTyr
ENST00000449131.6:c.834_835delinsCT (BEST1)	ENSP00000399709.2:p.Trp278_Asn279delinsCysTyr
ENST00000524877.5:n.2645_2646delinsCT (BEST1)
ENST00000524926.5:c.1217_1218delinsCT (BEST1)	ENSP00000432681.1:p.Gly406Ala
ENST00000526988.1:c.899_900delinsCT (BEST1)	ENSP00000433195.1:p.Gly300Ala
ENST00000529191.5:c.115-31_115-30delinsAG (FTH1)	ENSP00000431659.1:n.115-31_115-30delinsAG
ENST00000529631.5:c.115-54_115-53delinsAG (FTH1)	ENSP00000431575.1:n.115-54_115-53delinsAG
ENST00000530019.5:c.262-54_262-53delinsAG (FTH1)	ENSP00000433470.1:n.262-54_262-53delinsAG
ENST00000534553.5:c.164-2298_164-2297delinsCT (BEST1)	ENSP00000431189.1:n.164-2298_164-2297delinsCT
NM_001139443.1:c.834_835delinsCT (BEST1)	NP_001132915.1:p.Trp278_Asn279delinsCysTyr
NM_001300786.1:c.753_754delinsCT (BEST1)	NP_001287715.1:p.Trp251_Asn252delinsCysTyr
NM_001300787.1:c.834_835delinsCT (BEST1)	NP_001287716.1:p.Trp278_Asn279delinsCysTyr
NM_004183.3:c.1014_1015delinsCT (BEST1)	NP_004174.1:p.Trp338_Asn339delinsCysTyr
XM_005274210.2:c.1014_1015delinsCT (BEST1)	XP_005274267.1:p.Trp338_Asn339delinsCysTyr
XM_005274215.2:c.696_697delinsCT (BEST1)	XP_005274272.1:p.Trp232_Asn233delinsCysTyr
XM_005274216.2:c.1037_1038delinsCT (BEST1)	XP_005274273.1:p.Gly346Ala
XM_005274218.3:c.899_900delinsCT (BEST1)	XP_005274275.1:p.Gly300Ala
XM_005274219.2:c.867+1659_867+1660delinsCT (BEST1)	XP_005274276.1:n.867+1659_867+1660delinsCT
XM_005274221.2:c.715-2298_715-2297delinsCT (BEST1)	XP_005274278.1:n.715-2298_715-2297delinsCT
XM_011545229.1:c.1014_1015delinsCT (BEST1)	XP_011543531.1:p.Trp338_Asn339delinsCysTyr
XM_011545230.1:c.921_922delinsCT (BEST1)	XP_011543532.1:p.Trp307_Asn308delinsCysTyr
XM_011545231.1:c.696_697delinsCT (BEST1)	XP_011543533.1:p.Trp232_Asn233delinsCysTyr
XM_011545232.1:c.1217_1218delinsCT (BEST1)	XP_011543534.1:p.Gly406Ala
XM_011545233.1:c.171_172delinsCT (BEST1)	XP_011543535.1:p.Trp57_Asn58delinsCysTyr
NM_001363591.1:c.696_697delinsCT (BEST1)	NP_001350520.1:p.Trp232_Asn233delinsCysTyr
NM_001363592.1:c.1217_1218delinsCT (BEST1)	NP_001350521.1:p.Gly406Ala
NM_001363593.1:c.42_43delinsCT (BEST1)	NP_001350522.1:p.Trp14_Asn15delinsCysTyr
NR_134580.1:n.1797_1798delinsCT (BEST1)
XM_005274210.4:c.1014_1015delinsCT (BEST1)	XP_005274267.1:p.Trp338_Asn339delinsCysTyr
XM_005274215.4:c.696_697delinsCT (BEST1)	XP_005274272.1:p.Trp232_Asn233delinsCysTyr
XM_005274216.4:c.1037_1038delinsCT (BEST1)	XP_005274273.1:p.Gly346Ala
XM_005274219.4:c.867+1659_867+1660delinsCT (BEST1)	XP_005274276.1:n.867+1659_867+1660delinsCT
XM_005274221.4:c.715-2298_715-2297delinsCT (BEST1)	XP_005274278.1:n.715-2298_715-2297delinsCT
XM_011545229.3:c.1014_1015delinsCT (BEST1)	XP_011543531.1:p.Trp338_Asn339delinsCysTyr
XM_011545230.3:c.921_922delinsCT (BEST1)	XP_011543532.1:p.Trp307_Asn308delinsCysTyr
XM_011545233.3:c.171_172delinsCT (BEST1)	XP_011543535.1:p.Trp57_Asn58delinsCysTyr
XM_017018230.2:c.899_900delinsCT (BEST1)	XP_016873719.1:p.Gly300Ala
XR_001747952.2:n.1715_1716delinsCT (BEST1)
XR_001747953.2:n.1557+1659_1557+1660delinsCT (BEST1)
XR_001747954.2:n.1405-2298_1405-2297delinsCT (BEST1)
NM_004183.4:c.1014_1015delinsCT (BEST1) MANE Select	NP_004174.1:p.Trp338_Asn339delinsCysTyr
NM_001139443.2:c.834_835delinsCT (BEST1)	NP_001132915.1:p.Trp278_Asn279delinsCysTyr
NM_001300786.2:c.753_754delinsCT (BEST1)	NP_001287715.1:p.Trp251_Asn252delinsCysTyr
NM_001300787.2:c.834_835delinsCT (BEST1)	NP_001287716.1:p.Trp278_Asn279delinsCysTyr
NM_001363591.2:c.696_697delinsCT (BEST1)	NP_001350520.1:p.Trp232_Asn233delinsCysTyr
NM_001363593.2:c.42_43delinsCT (BEST1)	NP_001350522.1:p.Trp14_Asn15delinsCysTyr
NR_134580.2:n.1330_1331delinsCT (BEST1)