Canonical Allele Identifier: CA599524726

Gene: BEST1

Linked Data

• gnomAD v2: 11-61722559-A-ACCCCCCCCCC
• gnomAD v4: 11-61955087-A-ACCCCCCCCCC
• MyVariant Identifiers: chr11:g.61722559_61722560insCCCCCCCCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955092_61955093insCCCCCCCCCC , CM000673.2:g.61955092_61955093insCCCCCCCCCC	GRCh38
NC_000011.9:g.61722564_61722565insCCCCCCCCCC , CM000673.1:g.61722564_61722565insCCCCCCCCCC	GRCh37
NC_000011.8:g.61479140_61479141insCCCCCCCCCC	NCBI36
NG_009033.1:g.10209_10210insCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.153-15_153-14insCCCCCCCCCC MANE Select	ENSP00000367282.4:n.153-15_153-14insCCCCCCCCCC
ENST00000378043.8:c.153-15_153-14insCCCCCCCCCC	ENSP00000367282.4:n.153-15_153-14insCCCCCCCCCC
ENST00000449131.6:c.-28-15_-28-14insCCCCCCCCCC	ENSP00000399709.2:n.-28-15_-28-14insCCCCCCCCCC
ENST00000524877.5:n.69-15_69-14insCCCCCCCCCC
ENST00000524926.5:c.153-15_153-14insCCCCCCCCCC	ENSP00000432681.1:n.153-15_153-14insCCCCCCCCCC
ENST00000529265.5:n.76-15_76-14insCCCCCCCCCC
ENST00000533521.5:n.261-15_261-14insCCCCCCCCCC
ENST00000534553.5:c.-211-15_-211-14insCCCCCCCCCC	ENSP00000431189.1:n.-211-15_-211-14insCCCCCCCCCC
NM_001139443.1:c.-28-15_-28-14insCCCCCCCCCC	NP_001132915.1:n.-28-15_-28-14insCCCCCCCCCC
NM_001300786.1:c.-28-15_-28-14insCCCCCCCCCC	NP_001287715.1:n.-28-15_-28-14insCCCCCCCCCC
NM_001300787.1:c.-28-15_-28-14insCCCCCCCCCC	NP_001287716.1:n.-28-15_-28-14insCCCCCCCCCC
NM_004183.3:c.153-15_153-14insCCCCCCCCCC	NP_004174.1:n.153-15_153-14insCCCCCCCCCC
XM_005274210.2:c.153-15_153-14insCCCCCCCCCC	XP_005274267.1:n.153-15_153-14insCCCCCCCCCC
XM_005274216.2:c.-28-15_-28-14insCCCCCCCCCC	XP_005274273.1:n.-28-15_-28-14insCCCCCCCCCC
XM_005274218.3:c.-211-15_-211-14insCCCCCCCCCC	XP_005274275.1:n.-211-15_-211-14insCCCCCCCCCC
XM_005274219.2:c.153-15_153-14insCCCCCCCCCC	XP_005274276.1:n.153-15_153-14insCCCCCCCCCC
XM_005274221.2:c.153-15_153-14insCCCCCCCCCC	XP_005274278.1:n.153-15_153-14insCCCCCCCCCC
XM_011545229.1:c.153-15_153-14insCCCCCCCCCC	XP_011543531.1:n.153-15_153-14insCCCCCCCCCC
XM_011545230.1:c.60-15_60-14insCCCCCCCCCC	XP_011543532.1:n.60-15_60-14insCCCCCCCCCC
XM_011545231.1:c.-211-15_-211-14insCCCCCCCCCC	XP_011543533.1:n.-211-15_-211-14insCCCCCCCCCC
XM_011545232.1:c.153-15_153-14insCCCCCCCCCC	XP_011543534.1:n.153-15_153-14insCCCCCCCCCC
NM_001363591.1:c.-367_-366insCCCCCCCCCC	NP_001350520.1:n.-367_-366insCCCCCCCCCC
NM_001363592.1:c.153-15_153-14insCCCCCCCCCC	NP_001350521.1:n.153-15_153-14insCCCCCCCCCC
NM_001363593.1:c.-1224_-1223insCCCCCCCCCC	NP_001350522.1:n.-1224_-1223insCCCCCCCCCC
NR_134580.1:n.733-15_733-14insCCCCCCCCCC
XM_005274210.4:c.153-15_153-14insCCCCCCCCCC	XP_005274267.1:n.153-15_153-14insCCCCCCCCCC
XM_005274215.4:c.-367_-366insCCCCCCCCCC	XP_005274272.1:n.-367_-366insCCCCCCCCCC
XM_005274216.4:c.-28-15_-28-14insCCCCCCCCCC	XP_005274273.1:n.-28-15_-28-14insCCCCCCCCCC
XM_005274219.4:c.153-15_153-14insCCCCCCCCCC	XP_005274276.1:n.153-15_153-14insCCCCCCCCCC
XM_005274221.4:c.153-15_153-14insCCCCCCCCCC	XP_005274278.1:n.153-15_153-14insCCCCCCCCCC
XM_011545229.3:c.153-15_153-14insCCCCCCCCCC	XP_011543531.1:n.153-15_153-14insCCCCCCCCCC
XM_011545230.3:c.60-15_60-14insCCCCCCCCCC	XP_011543532.1:n.60-15_60-14insCCCCCCCCCC
XM_017018230.2:c.-367_-366insCCCCCCCCCC	XP_016873719.1:n.-367_-366insCCCCCCCCCC
XR_001747952.2:n.651-15_651-14insCCCCCCCCCC
XR_001747953.2:n.843-15_843-14insCCCCCCCCCC
XR_001747954.2:n.843-15_843-14insCCCCCCCCCC
XR_002957249.1:n.2650_2651insGGGGGGGGGG
NM_004183.4:c.153-15_153-14insCCCCCCCCCC MANE Select	NP_004174.1:n.153-15_153-14insCCCCCCCCCC
NM_001139443.2:c.-28-15_-28-14insCCCCCCCCCC	NP_001132915.1:n.-28-15_-28-14insCCCCCCCCCC
NM_001300786.2:c.-28-15_-28-14insCCCCCCCCCC	NP_001287715.1:n.-28-15_-28-14insCCCCCCCCCC
NM_001300787.2:c.-28-15_-28-14insCCCCCCCCCC	NP_001287716.1:n.-28-15_-28-14insCCCCCCCCCC
NR_134580.2:n.266-15_266-14insCCCCCCCCCC