Canonical Allele Identifier: CA2613922599

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955084-T-TGGGGGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955084_61955085insGGGGGGGGGGC , CM000673.2:g.61955084_61955085insGGGGGGGGGGC	GRCh38
NC_000011.9:g.61722556_61722557insGGGGGGGGGGC , CM000673.1:g.61722556_61722557insGGGGGGGGGGC	GRCh37
NC_000011.8:g.61479132_61479133insGGGGGGGGGGC	NCBI36
NG_009033.1:g.10201_10202insGGGGGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.153-23_153-22insGGGGGGGGGGC MANE Select	ENSP00000367282.4:n.153-23_153-22insGGGGGGGGGGC
ENST00000378043.8:c.153-23_153-22insGGGGGGGGGGC	ENSP00000367282.4:n.153-23_153-22insGGGGGGGGGGC
ENST00000449131.6:c.-28-23_-28-22insGGGGGGGGGGC	ENSP00000399709.2:n.-28-23_-28-22insGGGGGGGGGGC
ENST00000524877.5:n.69-23_69-22insGGGGGGGGGGC
ENST00000524926.5:c.153-23_153-22insGGGGGGGGGGC	ENSP00000432681.1:n.153-23_153-22insGGGGGGGGGGC
ENST00000529265.5:n.76-23_76-22insGGGGGGGGGGC
ENST00000533521.5:n.261-23_261-22insGGGGGGGGGGC
ENST00000534553.5:c.-211-23_-211-22insGGGGGGGGGGC	ENSP00000431189.1:n.-211-23_-211-22insGGGGGGGGGGC
NM_001139443.1:c.-28-23_-28-22insGGGGGGGGGGC	NP_001132915.1:n.-28-23_-28-22insGGGGGGGGGGC
NM_001300786.1:c.-28-23_-28-22insGGGGGGGGGGC	NP_001287715.1:n.-28-23_-28-22insGGGGGGGGGGC
NM_001300787.1:c.-28-23_-28-22insGGGGGGGGGGC	NP_001287716.1:n.-28-23_-28-22insGGGGGGGGGGC
NM_004183.3:c.153-23_153-22insGGGGGGGGGGC	NP_004174.1:n.153-23_153-22insGGGGGGGGGGC
XM_005274210.2:c.153-23_153-22insGGGGGGGGGGC	XP_005274267.1:n.153-23_153-22insGGGGGGGGGGC
XM_005274216.2:c.-28-23_-28-22insGGGGGGGGGGC	XP_005274273.1:n.-28-23_-28-22insGGGGGGGGGGC
XM_005274218.3:c.-211-23_-211-22insGGGGGGGGGGC	XP_005274275.1:n.-211-23_-211-22insGGGGGGGGGGC
XM_005274219.2:c.153-23_153-22insGGGGGGGGGGC	XP_005274276.1:n.153-23_153-22insGGGGGGGGGGC
XM_005274221.2:c.153-23_153-22insGGGGGGGGGGC	XP_005274278.1:n.153-23_153-22insGGGGGGGGGGC
XM_011545229.1:c.153-23_153-22insGGGGGGGGGGC	XP_011543531.1:n.153-23_153-22insGGGGGGGGGGC
XM_011545230.1:c.60-23_60-22insGGGGGGGGGGC	XP_011543532.1:n.60-23_60-22insGGGGGGGGGGC
XM_011545231.1:c.-211-23_-211-22insGGGGGGGGGGC	XP_011543533.1:n.-211-23_-211-22insGGGGGGGGGGC
XM_011545232.1:c.153-23_153-22insGGGGGGGGGGC	XP_011543534.1:n.153-23_153-22insGGGGGGGGGGC
NM_001363591.1:c.-375_-374insGGGGGGGGGGC	NP_001350520.1:n.-375_-374insGGGGGGGGGGC
NM_001363592.1:c.153-23_153-22insGGGGGGGGGGC	NP_001350521.1:n.153-23_153-22insGGGGGGGGGGC
NM_001363593.1:c.-1232_-1231insGGGGGGGGGGC	NP_001350522.1:n.-1232_-1231insGGGGGGGGGGC
NR_134580.1:n.733-23_733-22insGGGGGGGGGGC
XM_005274210.4:c.153-23_153-22insGGGGGGGGGGC	XP_005274267.1:n.153-23_153-22insGGGGGGGGGGC
XM_005274215.4:c.-375_-374insGGGGGGGGGGC	XP_005274272.1:n.-375_-374insGGGGGGGGGGC
XM_005274216.4:c.-28-23_-28-22insGGGGGGGGGGC	XP_005274273.1:n.-28-23_-28-22insGGGGGGGGGGC
XM_005274219.4:c.153-23_153-22insGGGGGGGGGGC	XP_005274276.1:n.153-23_153-22insGGGGGGGGGGC
XM_005274221.4:c.153-23_153-22insGGGGGGGGGGC	XP_005274278.1:n.153-23_153-22insGGGGGGGGGGC
XM_011545229.3:c.153-23_153-22insGGGGGGGGGGC	XP_011543531.1:n.153-23_153-22insGGGGGGGGGGC
XM_011545230.3:c.60-23_60-22insGGGGGGGGGGC	XP_011543532.1:n.60-23_60-22insGGGGGGGGGGC
XM_017018230.2:c.-375_-374insGGGGGGGGGGC	XP_016873719.1:n.-375_-374insGGGGGGGGGGC
XR_001747952.2:n.651-23_651-22insGGGGGGGGGGC
XR_001747953.2:n.843-23_843-22insGGGGGGGGGGC
XR_001747954.2:n.843-23_843-22insGGGGGGGGGGC
XR_002957249.1:n.2653_2654insGCCCCCCCCCC
NM_004183.4:c.153-23_153-22insGGGGGGGGGGC MANE Select	NP_004174.1:n.153-23_153-22insGGGGGGGGGGC
NM_001139443.2:c.-28-23_-28-22insGGGGGGGGGGC	NP_001132915.1:n.-28-23_-28-22insGGGGGGGGGGC
NM_001300786.2:c.-28-23_-28-22insGGGGGGGGGGC	NP_001287715.1:n.-28-23_-28-22insGGGGGGGGGGC
NM_001300787.2:c.-28-23_-28-22insGGGGGGGGGGC	NP_001287716.1:n.-28-23_-28-22insGGGGGGGGGGC
NR_134580.2:n.266-23_266-22insGGGGGGGGGGC