Canonical Allele Identifier: CA1977534480
Gene: BEST1 HGNC NCBI
FTH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959788_61959790delinsCTG , CM000673.2:g.61959788_61959790delinsCTG GRCh38
NC_000011.9:g.61727260_61727262delinsCTG , CM000673.1:g.61727260_61727262delinsCTG GRCh37
NC_000011.8:g.61483836_61483838delinsCTG NCBI36
NG_009033.1:g.14905_14907delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.949-104_949-102delinsCTG (BEST1) MANE Select ENSP00000367282.4:n.949-104_949-102delinsCTG
ENST00000378043.8:c.949-104_949-102delinsCTG (BEST1) ENSP00000367282.4:n.949-104_949-102delinsCTG
ENST00000449131.6:c.769-104_769-102delinsCTG (BEST1) ENSP00000399709.2:n.769-104_769-102delinsCTG
ENST00000524877.5:n.2580-104_2580-102delinsCTG (BEST1)
ENST00000524926.5:c.1152-104_1152-102delinsCTG (BEST1) ENSP00000432681.1:n.1152-104_1152-102delinsCTG
ENST00000526988.1:c.834-104_834-102delinsCTG (BEST1) ENSP00000433195.1:n.834-104_834-102delinsCTG
ENST00000529191.5:c.252_254delinsCAG (FTH1) ENSP00000431659.1:p.Leu84=
ENST00000529631.5:c.229_231delinsCAG (FTH1) ENSP00000431575.1:p.Gln77=
ENST00000534553.5:c.164-2467_164-2465delinsCTG (BEST1) ENSP00000431189.1:n.164-2467_164-2465delinsCTG
NM_001139443.1:c.769-104_769-102delinsCTG (BEST1) NP_001132915.1:n.769-104_769-102delinsCTG
NM_001300786.1:c.688-104_688-102delinsCTG (BEST1) NP_001287715.1:n.688-104_688-102delinsCTG
NM_001300787.1:c.769-104_769-102delinsCTG (BEST1) NP_001287716.1:n.769-104_769-102delinsCTG
NM_004183.3:c.949-104_949-102delinsCTG (BEST1) NP_004174.1:n.949-104_949-102delinsCTG
XM_005274210.2:c.949-104_949-102delinsCTG (BEST1) XP_005274267.1:n.949-104_949-102delinsCTG
XM_005274215.2:c.631-104_631-102delinsCTG (BEST1) XP_005274272.1:n.631-104_631-102delinsCTG
XM_005274216.2:c.972-104_972-102delinsCTG (BEST1) XP_005274273.1:n.972-104_972-102delinsCTG
XM_005274218.3:c.834-104_834-102delinsCTG (BEST1) XP_005274275.1:n.834-104_834-102delinsCTG
XM_005274219.2:c.867+1490_867+1492delinsCTG (BEST1) XP_005274276.1:n.867+1490_867+1492delinsCTG
XM_005274221.2:c.714+2324_714+2326delinsCTG (BEST1) XP_005274278.1:n.714+2324_714+2326delinsCTG
XM_011545229.1:c.949-104_949-102delinsCTG (BEST1) XP_011543531.1:n.949-104_949-102delinsCTG
XM_011545230.1:c.856-104_856-102delinsCTG (BEST1) XP_011543532.1:n.856-104_856-102delinsCTG
XM_011545231.1:c.631-104_631-102delinsCTG (BEST1) XP_011543533.1:n.631-104_631-102delinsCTG
XM_011545232.1:c.1152-104_1152-102delinsCTG (BEST1) XP_011543534.1:n.1152-104_1152-102delinsCTG
XM_011545233.1:c.106-104_106-102delinsCTG (BEST1) XP_011543535.1:n.106-104_106-102delinsCTG
NM_001363591.1:c.631-104_631-102delinsCTG (BEST1) NP_001350520.1:n.631-104_631-102delinsCTG
NM_001363592.1:c.1152-104_1152-102delinsCTG (BEST1) NP_001350521.1:n.1152-104_1152-102delinsCTG
NM_001363593.1:c.-24-104_-24-102delinsCTG (BEST1) NP_001350522.1:n.-24-104_-24-102delinsCTG
NR_134580.1:n.1732-104_1732-102delinsCTG (BEST1)
XM_005274210.4:c.949-104_949-102delinsCTG (BEST1) XP_005274267.1:n.949-104_949-102delinsCTG
XM_005274215.4:c.631-104_631-102delinsCTG (BEST1) XP_005274272.1:n.631-104_631-102delinsCTG
XM_005274216.4:c.972-104_972-102delinsCTG (BEST1) XP_005274273.1:n.972-104_972-102delinsCTG
XM_005274219.4:c.867+1490_867+1492delinsCTG (BEST1) XP_005274276.1:n.867+1490_867+1492delinsCTG
XM_005274221.4:c.714+2324_714+2326delinsCTG (BEST1) XP_005274278.1:n.714+2324_714+2326delinsCTG
XM_011545229.3:c.949-104_949-102delinsCTG (BEST1) XP_011543531.1:n.949-104_949-102delinsCTG
XM_011545230.3:c.856-104_856-102delinsCTG (BEST1) XP_011543532.1:n.856-104_856-102delinsCTG
XM_011545233.3:c.106-104_106-102delinsCTG (BEST1) XP_011543535.1:n.106-104_106-102delinsCTG
XM_017018230.2:c.834-104_834-102delinsCTG (BEST1) XP_016873719.1:n.834-104_834-102delinsCTG
XR_001747952.2:n.1650-104_1650-102delinsCTG (BEST1)
XR_001747953.2:n.1557+1490_1557+1492delinsCTG (BEST1)
XR_001747954.2:n.1404+2324_1404+2326delinsCTG (BEST1)
XR_001748245.1:n.138_140delinsCAG
XR_002957249.1:n.138_140delinsCAG
NM_004183.4:c.949-104_949-102delinsCTG (BEST1) MANE Select NP_004174.1:n.949-104_949-102delinsCTG
NM_001139443.2:c.769-104_769-102delinsCTG (BEST1) NP_001132915.1:n.769-104_769-102delinsCTG
NM_001300786.2:c.688-104_688-102delinsCTG (BEST1) NP_001287715.1:n.688-104_688-102delinsCTG
NM_001300787.2:c.769-104_769-102delinsCTG (BEST1) NP_001287716.1:n.769-104_769-102delinsCTG
NM_001363591.2:c.631-104_631-102delinsCTG (BEST1) NP_001350520.1:n.631-104_631-102delinsCTG
NM_001363593.2:c.-24-104_-24-102delinsCTG (BEST1) NP_001350522.1:n.-24-104_-24-102delinsCTG
NR_134580.2:n.1265-104_1265-102delinsCTG (BEST1)
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