Canonical Allele Identifier: CA2613923074

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955109-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955110_61955111del , CM000673.2:g.61955110_61955111del	GRCh38
NC_000011.9:g.61722582_61722583del , CM000673.1:g.61722582_61722583del	GRCh37
NC_000011.8:g.61479158_61479159del	NCBI36
NG_009033.1:g.10227_10228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.156_157del MANE Select	ENSP00000367282.4:p.Ala53ProfsTer10
ENST00000378043.8:c.156_157del	ENSP00000367282.4:p.Ala53ProfsTer10
ENST00000449131.6:c.-25_-24del	ENSP00000399709.2:n.-25_-24del
ENST00000524877.5:n.72_73del
ENST00000524926.5:c.156_157del	ENSP00000432681.1:p.Ala53ProfsTer10
ENST00000529265.5:n.79_80del
ENST00000533521.5:n.264_265del
ENST00000534553.5:c.-208_-207del	ENSP00000431189.1:n.-208_-207del
NM_001139443.1:c.-25_-24del	NP_001132915.1:n.-25_-24del
NM_001300786.1:c.-25_-24del	NP_001287715.1:n.-25_-24del
NM_001300787.1:c.-25_-24del	NP_001287716.1:n.-25_-24del
NM_004183.3:c.156_157del	NP_004174.1:p.Ala53ProfsTer10
XM_005274210.2:c.156_157del	XP_005274267.1:p.Ala53ProfsTer10
XM_005274216.2:c.-25_-24del	XP_005274273.1:n.-25_-24del
XM_005274218.3:c.-208_-207del	XP_005274275.1:n.-208_-207del
XM_005274219.2:c.156_157del	XP_005274276.1:p.Ala53ProfsTer10
XM_005274221.2:c.156_157del	XP_005274278.1:p.Ala53ProfsTer10
XM_011545229.1:c.156_157del	XP_011543531.1:p.Ala53ProfsTer10
XM_011545230.1:c.63_64del	XP_011543532.1:p.Ala22ProfsTer10
XM_011545231.1:c.-208_-207del	XP_011543533.1:n.-208_-207del
XM_011545232.1:c.156_157del	XP_011543534.1:p.Ala53ProfsTer10
NM_001363591.1:c.-349_-348del	NP_001350520.1:n.-349_-348del
NM_001363592.1:c.156_157del	NP_001350521.1:p.Ala53ProfsTer10
NM_001363593.1:c.-1206_-1205del	NP_001350522.1:n.-1206_-1205del
NR_134580.1:n.736_737del
XM_005274210.4:c.156_157del	XP_005274267.1:p.Ala53ProfsTer10
XM_005274215.4:c.-349_-348del	XP_005274272.1:n.-349_-348del
XM_005274216.4:c.-25_-24del	XP_005274273.1:n.-25_-24del
XM_005274219.4:c.156_157del	XP_005274276.1:p.Ala53ProfsTer10
XM_005274221.4:c.156_157del	XP_005274278.1:p.Ala53ProfsTer10
XM_011545229.3:c.156_157del	XP_011543531.1:p.Ala53ProfsTer10
XM_011545230.3:c.63_64del	XP_011543532.1:p.Ala22ProfsTer10
XM_017018230.2:c.-349_-348del	XP_016873719.1:n.-349_-348del
XR_001747952.2:n.654_655del
XR_001747953.2:n.846_847del
XR_001747954.2:n.846_847del
XR_002957249.1:n.2627_2628del
NM_004183.4:c.156_157del MANE Select	NP_004174.1:p.Ala53ProfsTer10
NM_001139443.2:c.-25_-24del	NP_001132915.1:n.-25_-24del
NM_001300786.2:c.-25_-24del	NP_001287715.1:n.-25_-24del
NM_001300787.2:c.-25_-24del	NP_001287716.1:n.-25_-24del
NR_134580.2:n.269_270del