Canonical Allele Identifier: CA2613923949

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955475-G-GAGGGGGTCTGGCGGATTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955492_61955493insGCAGGGGGTCTGGCGGATT , CM000673.2:g.61955492_61955493insGCAGGGGGTCTGGCGGATT	GRCh38
NC_000011.9:g.61722964_61722965insGCAGGGGGTCTGGCGGATT , CM000673.1:g.61722964_61722965insGCAGGGGGTCTGGCGGATT	GRCh37
NC_000011.8:g.61479540_61479541insGCAGGGGGTCTGGCGGATT	NCBI36
NG_009033.1:g.10609_10610insGCAGGGGGTCTGGCGGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.248-226_248-225insGCAGGGGGTCTGGCGGATT MANE Select	ENSP00000367282.4:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
ENST00000378043.8:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	ENSP00000367282.4:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
ENST00000449131.6:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	ENSP00000399709.2:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
ENST00000524877.5:n.454_455insGCAGGGGGTCTGGCGGATT
ENST00000524926.5:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	ENSP00000432681.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
ENST00000526988.1:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	ENSP00000433195.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
ENST00000529265.5:n.171-226_171-225insGCAGGGGGTCTGGCGGATT
ENST00000533521.5:n.646_647insGCAGGGGGTCTGGCGGATT
ENST00000534553.5:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	ENSP00000431189.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
NM_001139443.1:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	NP_001132915.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
NM_001300786.1:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	NP_001287715.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
NM_001300787.1:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	NP_001287716.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
NM_004183.3:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	NP_004174.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_005274210.2:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_005274267.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_005274215.2:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	XP_005274272.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
XM_005274216.2:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	XP_005274273.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
XM_005274218.3:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	XP_005274275.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
XM_005274219.2:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_005274276.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_005274221.2:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_005274278.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_011545229.1:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_011543531.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_011545230.1:c.155-226_155-225insGCAGGGGGTCTGGCGGATT	XP_011543532.1:n.155-226_155-225insGCAGGGGGTCTGGCGGATT
XM_011545231.1:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	XP_011543533.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
XM_011545232.1:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_011543534.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
NM_001363591.1:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	NP_001350520.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
NM_001363592.1:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	NP_001350521.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
NM_001363593.1:c.-929+105_-929+106insGCAGGGGGTCTGGCGGATT	NP_001350522.1:n.-929+105_-929+106insGCAGGGGGTCTGGCGGATT
NR_134580.1:n.828-226_828-225insGCAGGGGGTCTGGCGGATT
XM_005274210.4:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_005274267.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_005274215.4:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	XP_005274272.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
XM_005274216.4:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	XP_005274273.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
XM_005274219.4:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_005274276.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_005274221.4:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_005274278.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_011545229.3:c.248-226_248-225insGCAGGGGGTCTGGCGGATT	XP_011543531.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
XM_011545230.3:c.155-226_155-225insGCAGGGGGTCTGGCGGATT	XP_011543532.1:n.155-226_155-225insGCAGGGGGTCTGGCGGATT
XM_017018230.2:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	XP_016873719.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
XR_001747952.2:n.746-226_746-225insGCAGGGGGTCTGGCGGATT
XR_001747953.2:n.938-226_938-225insGCAGGGGGTCTGGCGGATT
XR_001747954.2:n.938-226_938-225insGCAGGGGGTCTGGCGGATT
XR_002957249.1:n.2262_2263insGCAATCCGCCAGACCCCCT
NM_004183.4:c.248-226_248-225insGCAGGGGGTCTGGCGGATT MANE Select	NP_004174.1:n.248-226_248-225insGCAGGGGGTCTGGCGGATT
NM_001139443.2:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	NP_001132915.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
NM_001300786.2:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	NP_001287715.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
NM_001300787.2:c.68-226_68-225insGCAGGGGGTCTGGCGGATT	NP_001287716.1:n.68-226_68-225insGCAGGGGGTCTGGCGGATT
NM_001363591.2:c.-72+105_-72+106insGCAGGGGGTCTGGCGGATT	NP_001350520.1:n.-72+105_-72+106insGCAGGGGGTCTGGCGGATT
NM_001363593.2:c.-929+105_-929+106insGCAGGGGGTCTGGCGGATT	NP_001350522.1:n.-929+105_-929+106insGCAGGGGGTCTGGCGGATT
NR_134580.2:n.361-226_361-225insGCAGGGGGTCTGGCGGATT