Canonical Allele Identifier: CA6040879

Gene: BEST1

Linked Data

• dbSNP Id: rs777471862
• ExAC: 11:61725801 AG / A
• gnomAD v2: 11-61725801-AG-A
• gnomAD v4: 11-61958329-AG-A
• MyVariant Identifiers: chr11:g.61725802del (hg19) ; chr11:g.61958330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958331del , CM000673.2:g.61958331del	GRCh38
NC_000011.9:g.61725803del , CM000673.1:g.61725803del	GRCh37
NC_000011.8:g.61482379del	NCBI36
NG_009033.1:g.13448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+33del MANE Select	ENSP00000367282.4:n.867+33del
ENST00000378043.8:c.867+33del	ENSP00000367282.4:n.867+33del
ENST00000449131.6:c.687+33del	ENSP00000399709.2:n.687+33del
ENST00000524877.5:n.1332del
ENST00000524926.5:c.900del	ENSP00000432681.1:p.Arg300SerfsTer26
ENST00000526988.1:c.582del	ENSP00000433195.1:p.Arg194SerfsTer26
ENST00000529265.5:n.823del
ENST00000534553.5:c.163+2380del	ENSP00000431189.1:n.163+2380del
NM_001139443.1:c.687+33del	NP_001132915.1:n.687+33del
NM_001300786.1:c.687+33del	NP_001287715.1:n.687+33del
NM_001300787.1:c.687+33del	NP_001287716.1:n.687+33del
NM_004183.3:c.867+33del	NP_004174.1:n.867+33del
XM_005274210.2:c.867+33del	XP_005274267.1:n.867+33del
XM_005274215.2:c.549+33del	XP_005274272.1:n.549+33del
XM_005274216.2:c.720del	XP_005274273.1:p.Arg240SerfsTer26
XM_005274218.3:c.582del	XP_005274275.1:p.Arg194SerfsTer26
XM_005274219.2:c.867+33del	XP_005274276.1:n.867+33del
XM_005274221.2:c.714+867del	XP_005274278.1:n.714+867del
XM_011545229.1:c.867+33del	XP_011543531.1:n.867+33del
XM_011545230.1:c.774+33del	XP_011543532.1:n.774+33del
XM_011545231.1:c.549+33del	XP_011543533.1:n.549+33del
XM_011545232.1:c.900del	XP_011543534.1:p.Arg300SerfsTer26
NM_001363591.1:c.549+33del	NP_001350520.1:n.549+33del
NM_001363592.1:c.900del	NP_001350521.1:p.Arg300SerfsTer26
NM_001363593.1:c.-276del	NP_001350522.1:n.-276del
NR_134580.1:n.1480del
XM_005274210.4:c.867+33del	XP_005274267.1:n.867+33del
XM_005274215.4:c.549+33del	XP_005274272.1:n.549+33del
XM_005274216.4:c.720del	XP_005274273.1:p.Arg240SerfsTer26
XM_005274219.4:c.867+33del	XP_005274276.1:n.867+33del
XM_005274221.4:c.714+867del	XP_005274278.1:n.714+867del
XM_011545229.3:c.867+33del	XP_011543531.1:n.867+33del
XM_011545230.3:c.774+33del	XP_011543532.1:n.774+33del
XM_017018230.2:c.582del	XP_016873719.1:p.Arg194SerfsTer26
XR_001747952.2:n.1398del
XR_001747953.2:n.1557+33del
XR_001747954.2:n.1404+867del
XR_001748245.1:n.399del
XR_002957249.1:n.399del
NM_004183.4:c.867+33del MANE Select	NP_004174.1:n.867+33del
NM_001139443.2:c.687+33del	NP_001132915.1:n.687+33del
NM_001300786.2:c.687+33del	NP_001287715.1:n.687+33del
NM_001300787.2:c.687+33del	NP_001287716.1:n.687+33del
NM_001363591.2:c.549+33del	NP_001350520.1:n.549+33del
NM_001363593.2:c.-276del	NP_001350522.1:n.-276del
NR_134580.2:n.1013del