Canonical Allele Identifier: CA222939130

Gene: BEST1

Linked Data

• dbSNP Id: rs770921728
• gnomAD v2: 11-61726924-TGAG-T
• gnomAD v4: 11-61959452-TGAG-T
• MyVariant Identifiers: chr11:g.61726925_61726927del (hg19) ; chr11:g.61959453_61959455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959456_61959458del , CM000673.2:g.61959456_61959458del	GRCh38
NC_000011.9:g.61726928_61726930del , CM000673.1:g.61726928_61726930del	GRCh37
NC_000011.8:g.61483504_61483506del	NCBI36
NG_009033.1:g.14573_14575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.868-42_868-40del MANE Select	ENSP00000367282.4:n.868-42_868-40del
ENST00000378043.8:c.868-42_868-40del	ENSP00000367282.4:n.868-42_868-40del
ENST00000449131.6:c.688-42_688-40del	ENSP00000399709.2:n.688-42_688-40del
ENST00000524877.5:n.2457_2459del
ENST00000524926.5:c.1071-42_1071-40del	ENSP00000432681.1:n.1071-42_1071-40del
ENST00000526988.1:c.753-42_753-40del	ENSP00000433195.1:n.753-42_753-40del
ENST00000534553.5:c.164-2799_164-2797del	ENSP00000431189.1:n.164-2799_164-2797del
NM_001139443.1:c.688-42_688-40del	NP_001132915.1:n.688-42_688-40del
NM_001300786.1:c.688-436_688-434del	NP_001287715.1:n.688-436_688-434del
NM_001300787.1:c.688-42_688-40del	NP_001287716.1:n.688-42_688-40del
NM_004183.3:c.868-42_868-40del	NP_004174.1:n.868-42_868-40del
XM_005274210.2:c.868-42_868-40del	XP_005274267.1:n.868-42_868-40del
XM_005274215.2:c.550-42_550-40del	XP_005274272.1:n.550-42_550-40del
XM_005274216.2:c.891-42_891-40del	XP_005274273.1:n.891-42_891-40del
XM_005274218.3:c.753-42_753-40del	XP_005274275.1:n.753-42_753-40del
XM_005274219.2:c.867+1158_867+1160del	XP_005274276.1:n.867+1158_867+1160del
XM_005274221.2:c.714+1992_714+1994del	XP_005274278.1:n.714+1992_714+1994del
XM_011545229.1:c.868-42_868-40del	XP_011543531.1:n.868-42_868-40del
XM_011545230.1:c.775-42_775-40del	XP_011543532.1:n.775-42_775-40del
XM_011545231.1:c.550-42_550-40del	XP_011543533.1:n.550-42_550-40del
XM_011545232.1:c.1071-42_1071-40del	XP_011543534.1:n.1071-42_1071-40del
XM_011545233.1:c.25-42_25-40del	XP_011543535.1:n.25-42_25-40del
NM_001363591.1:c.550-42_550-40del	NP_001350520.1:n.550-42_550-40del
NM_001363592.1:c.1071-42_1071-40del	NP_001350521.1:n.1071-42_1071-40del
NM_001363593.1:c.-105-42_-105-40del	NP_001350522.1:n.-105-42_-105-40del
NR_134580.1:n.1651-42_1651-40del
XM_005274210.4:c.868-42_868-40del	XP_005274267.1:n.868-42_868-40del
XM_005274215.4:c.550-42_550-40del	XP_005274272.1:n.550-42_550-40del
XM_005274216.4:c.891-42_891-40del	XP_005274273.1:n.891-42_891-40del
XM_005274219.4:c.867+1158_867+1160del	XP_005274276.1:n.867+1158_867+1160del
XM_005274221.4:c.714+1992_714+1994del	XP_005274278.1:n.714+1992_714+1994del
XM_011545229.3:c.868-42_868-40del	XP_011543531.1:n.868-42_868-40del
XM_011545230.3:c.775-42_775-40del	XP_011543532.1:n.775-42_775-40del
XM_011545233.3:c.25-42_25-40del	XP_011543535.1:n.25-42_25-40del
XM_017018230.2:c.753-42_753-40del	XP_016873719.1:n.753-42_753-40del
XR_001747952.2:n.1569-42_1569-40del
XR_001747953.2:n.1557+1158_1557+1160del
XR_001747954.2:n.1404+1992_1404+1994del
XR_001748245.1:n.196+277_196+279del
XR_002957249.1:n.196+277_196+279del
NM_004183.4:c.868-42_868-40del MANE Select	NP_004174.1:n.868-42_868-40del
NM_001139443.2:c.688-42_688-40del	NP_001132915.1:n.688-42_688-40del
NM_001300786.2:c.688-436_688-434del	NP_001287715.1:n.688-436_688-434del
NM_001300787.2:c.688-42_688-40del	NP_001287716.1:n.688-42_688-40del
NM_001363591.2:c.550-42_550-40del	NP_001350520.1:n.550-42_550-40del
NM_001363593.2:c.-105-42_-105-40del	NP_001350522.1:n.-105-42_-105-40del
NR_134580.2:n.1184-42_1184-40del