Canonical Allele Identifier: CA1977560614

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955023_61955024delinsAC , CM000673.2:g.61955023_61955024delinsAC	GRCh38
NC_000011.9:g.61722495_61722496delinsAC , CM000673.1:g.61722495_61722496delinsAC	GRCh37
NC_000011.8:g.61479071_61479072delinsAC	NCBI36
NG_009033.1:g.10140_10141delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.153-84_153-83delinsAC MANE Select	ENSP00000367282.4:n.153-84_153-83delinsAC
ENST00000378043.8:c.153-84_153-83delinsAC	ENSP00000367282.4:n.153-84_153-83delinsAC
ENST00000449131.6:c.-28-84_-28-83delinsAC	ENSP00000399709.2:n.-28-84_-28-83delinsAC
ENST00000524877.5:n.69-84_69-83delinsAC
ENST00000524926.5:c.153-84_153-83delinsAC	ENSP00000432681.1:n.153-84_153-83delinsAC
ENST00000529265.5:n.76-84_76-83delinsAC
ENST00000533521.5:n.261-84_261-83delinsAC
ENST00000534553.5:c.-211-84_-211-83delinsAC	ENSP00000431189.1:n.-211-84_-211-83delinsAC
NM_001139443.1:c.-28-84_-28-83delinsAC	NP_001132915.1:n.-28-84_-28-83delinsAC
NM_001300786.1:c.-28-84_-28-83delinsAC	NP_001287715.1:n.-28-84_-28-83delinsAC
NM_001300787.1:c.-28-84_-28-83delinsAC	NP_001287716.1:n.-28-84_-28-83delinsAC
NM_004183.3:c.153-84_153-83delinsAC	NP_004174.1:n.153-84_153-83delinsAC
XM_005274210.2:c.153-84_153-83delinsAC	XP_005274267.1:n.153-84_153-83delinsAC
XM_005274216.2:c.-28-84_-28-83delinsAC	XP_005274273.1:n.-28-84_-28-83delinsAC
XM_005274218.3:c.-211-84_-211-83delinsAC	XP_005274275.1:n.-211-84_-211-83delinsAC
XM_005274219.2:c.153-84_153-83delinsAC	XP_005274276.1:n.153-84_153-83delinsAC
XM_005274221.2:c.153-84_153-83delinsAC	XP_005274278.1:n.153-84_153-83delinsAC
XM_011545229.1:c.153-84_153-83delinsAC	XP_011543531.1:n.153-84_153-83delinsAC
XM_011545230.1:c.60-84_60-83delinsAC	XP_011543532.1:n.60-84_60-83delinsAC
XM_011545231.1:c.-211-84_-211-83delinsAC	XP_011543533.1:n.-211-84_-211-83delinsAC
XM_011545232.1:c.153-84_153-83delinsAC	XP_011543534.1:n.153-84_153-83delinsAC
NM_001363591.1:c.-436_-435delinsAC	NP_001350520.1:n.-436_-435delinsAC
NM_001363592.1:c.153-84_153-83delinsAC	NP_001350521.1:n.153-84_153-83delinsAC
NM_001363593.1:c.-1293_-1292delinsAC	NP_001350522.1:n.-1293_-1292delinsAC
NR_134580.1:n.733-84_733-83delinsAC
XM_005274210.4:c.153-84_153-83delinsAC	XP_005274267.1:n.153-84_153-83delinsAC
XM_005274215.4:c.-436_-435delinsAC	XP_005274272.1:n.-436_-435delinsAC
XM_005274216.4:c.-28-84_-28-83delinsAC	XP_005274273.1:n.-28-84_-28-83delinsAC
XM_005274219.4:c.153-84_153-83delinsAC	XP_005274276.1:n.153-84_153-83delinsAC
XM_005274221.4:c.153-84_153-83delinsAC	XP_005274278.1:n.153-84_153-83delinsAC
XM_011545229.3:c.153-84_153-83delinsAC	XP_011543531.1:n.153-84_153-83delinsAC
XM_011545230.3:c.60-84_60-83delinsAC	XP_011543532.1:n.60-84_60-83delinsAC
XM_017018230.2:c.-436_-435delinsAC	XP_016873719.1:n.-436_-435delinsAC
XR_001747952.2:n.651-84_651-83delinsAC
XR_001747953.2:n.843-84_843-83delinsAC
XR_001747954.2:n.843-84_843-83delinsAC
XR_002957249.1:n.2714_2715delinsGT
NM_004183.4:c.153-84_153-83delinsAC MANE Select	NP_004174.1:n.153-84_153-83delinsAC
NM_001139443.2:c.-28-84_-28-83delinsAC	NP_001132915.1:n.-28-84_-28-83delinsAC
NM_001300786.2:c.-28-84_-28-83delinsAC	NP_001287715.1:n.-28-84_-28-83delinsAC
NM_001300787.2:c.-28-84_-28-83delinsAC	NP_001287716.1:n.-28-84_-28-83delinsAC
NR_134580.2:n.266-84_266-83delinsAC