Canonical Allele Identifier: CA2695214325

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955823_61955832dup , CM000673.2:g.61955823_61955832dup	GRCh38
NC_000011.9:g.61723295_61723304dup , CM000673.1:g.61723295_61723304dup	GRCh37
NC_000011.8:g.61479871_61479880dup	NCBI36
NG_009033.1:g.10940_10949dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.353_362dup MANE Select	ENSP00000367282.4:p.Leu123AlafsTer?
ENST00000378043.8:c.353_362dup	ENSP00000367282.4:p.Leu123AlafsTer?
ENST00000449131.6:c.173_182dup	ENSP00000399709.2:p.Leu63AlafsTer?
ENST00000524877.5:n.785_794dup
ENST00000524926.5:c.353_362dup	ENSP00000432681.1:p.Leu123AlafsTer?
ENST00000526988.1:c.35_44dup	ENSP00000433195.1:p.Leu17AlafsTer?
ENST00000529265.5:n.276_285dup
ENST00000533521.5:n.977_986dup
ENST00000534553.5:c.35_44dup	ENSP00000431189.1:p.Leu17AlafsTer?
NM_001139443.1:c.173_182dup	NP_001132915.1:p.Leu63AlafsTer?
NM_001300786.1:c.173_182dup	NP_001287715.1:p.Leu63AlafsTer?
NM_001300787.1:c.173_182dup	NP_001287716.1:p.Leu63AlafsTer?
NM_004183.3:c.353_362dup	NP_004174.1:p.Leu123AlafsTer?
XM_005274210.2:c.353_362dup	XP_005274267.1:p.Leu123AlafsTer?
XM_005274215.2:c.35_44dup	XP_005274272.1:p.Leu17AlafsTer?
XM_005274216.2:c.173_182dup	XP_005274273.1:p.Leu63AlafsTer?
XM_005274218.3:c.35_44dup	XP_005274275.1:p.Leu17AlafsTer?
XM_005274219.2:c.353_362dup	XP_005274276.1:p.Leu123AlafsTer?
XM_005274221.2:c.353_362dup	XP_005274278.1:p.Leu123AlafsTer?
XM_011545229.1:c.353_362dup	XP_011543531.1:p.Leu123AlafsTer?
XM_011545230.1:c.260_269dup	XP_011543532.1:p.Leu92AlafsTer?
XM_011545231.1:c.35_44dup	XP_011543533.1:p.Leu17AlafsTer?
XM_011545232.1:c.353_362dup	XP_011543534.1:p.Leu123AlafsTer?
NM_001363591.1:c.35_44dup	NP_001350520.1:p.Leu17AlafsTer?
NM_001363592.1:c.353_362dup	NP_001350521.1:p.Leu123AlafsTer?
NM_001363593.1:c.-823_-814dup	NP_001350522.1:n.-823_-814dup
NR_134580.1:n.933_942dup
XM_005274210.4:c.353_362dup	XP_005274267.1:p.Leu123AlafsTer?
XM_005274215.4:c.35_44dup	XP_005274272.1:p.Leu17AlafsTer?
XM_005274216.4:c.173_182dup	XP_005274273.1:p.Leu63AlafsTer?
XM_005274219.4:c.353_362dup	XP_005274276.1:p.Leu123AlafsTer?
XM_005274221.4:c.353_362dup	XP_005274278.1:p.Leu123AlafsTer?
XM_011545229.3:c.353_362dup	XP_011543531.1:p.Leu123AlafsTer?
XM_011545230.3:c.260_269dup	XP_011543532.1:p.Leu92AlafsTer?
XM_017018230.2:c.35_44dup	XP_016873719.1:p.Leu17AlafsTer?
XR_001747952.2:n.851_860dup
XR_001747953.2:n.1043_1052dup
XR_001747954.2:n.1043_1052dup
XR_002957249.1:n.1912_1921dup
NM_004183.4:c.353_362dup MANE Select	NP_004174.1:p.Leu123AlafsTer?
NM_001139443.2:c.173_182dup	NP_001132915.1:p.Leu63AlafsTer?
NM_001300786.2:c.173_182dup	NP_001287715.1:p.Leu63AlafsTer?
NM_001300787.2:c.173_182dup	NP_001287716.1:p.Leu63AlafsTer?
NM_001363591.2:c.35_44dup	NP_001350520.1:p.Leu17AlafsTer?
NM_001363593.2:c.-823_-814dup	NP_001350522.1:n.-823_-814dup
NR_134580.2:n.466_475dup