Canonical Allele Identifier: CA658653799

Gene: BEST1

Linked Data

• ClinVar Variation Id: 444256
• ClinVar RCV Id: RCV000513216 ; RCV001199444
• dbSNP Id: rs1555100476
• MyVariant Identifiers: chr11:g.61724934del (hg19) ; chr11:g.61957462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957462del , CM000673.2:g.61957462del	GRCh38
NC_000011.9:g.61724934del , CM000673.1:g.61724934del	GRCh37
NC_000011.8:g.61481510del	NCBI36
NG_009033.1:g.12579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.712del MANE Select	ENSP00000367282.4:p.Gln238ArgfsTer3
ENST00000378043.8:c.712del	ENSP00000367282.4:p.Gln238ArgfsTer3
ENST00000449131.6:c.532del	ENSP00000399709.2:p.Gln178ArgfsTer3
ENST00000524877.5:n.1144del
ENST00000524926.5:c.712del	ENSP00000432681.1:p.Gln238ArgfsTer3
ENST00000526988.1:c.394del	ENSP00000433195.1:p.Gln132ArgfsTer3
ENST00000529265.5:n.635del
ENST00000534553.5:c.163+1511del	ENSP00000431189.1:n.163+1511del
NM_001139443.1:c.532del	NP_001132915.1:p.Gln178ArgfsTer3
NM_001300786.1:c.532del	NP_001287715.1:p.Gln178ArgfsTer3
NM_001300787.1:c.532del	NP_001287716.1:p.Gln178ArgfsTer3
NM_004183.3:c.712del	NP_004174.1:p.Gln238ArgfsTer3
XM_005274210.2:c.712del	XP_005274267.1:p.Gln238ArgfsTer3
XM_005274215.2:c.394del	XP_005274272.1:p.Gln132ArgfsTer3
XM_005274216.2:c.532del	XP_005274273.1:p.Gln178ArgfsTer3
XM_005274218.3:c.394del	XP_005274275.1:p.Gln132ArgfsTer3
XM_005274219.2:c.712del	XP_005274276.1:p.Gln238ArgfsTer3
XM_005274221.2:c.712del	XP_005274278.1:p.Gln238SerfsTer?
XM_011545229.1:c.712del	XP_011543531.1:p.Gln238ArgfsTer3
XM_011545230.1:c.619del	XP_011543532.1:p.Gln207ArgfsTer3
XM_011545231.1:c.394del	XP_011543533.1:p.Gln132ArgfsTer3
XM_011545232.1:c.712del	XP_011543534.1:p.Gln238ArgfsTer3
NM_001363591.1:c.394del	NP_001350520.1:p.Gln132ArgfsTer3
NM_001363592.1:c.712del	NP_001350521.1:p.Gln238ArgfsTer3
NM_001363593.1:c.-464del	NP_001350522.1:n.-464del
NR_134580.1:n.1292del
XM_005274210.4:c.712del	XP_005274267.1:p.Gln238ArgfsTer3
XM_005274215.4:c.394del	XP_005274272.1:p.Gln132ArgfsTer3
XM_005274216.4:c.532del	XP_005274273.1:p.Gln178ArgfsTer3
XM_005274219.4:c.712del	XP_005274276.1:p.Gln238ArgfsTer3
XM_005274221.4:c.712del	XP_005274278.1:p.Gln238SerfsTer?
XM_011545229.3:c.712del	XP_011543531.1:p.Gln238ArgfsTer3
XM_011545230.3:c.619del	XP_011543532.1:p.Gln207ArgfsTer3
XM_017018230.2:c.394del	XP_016873719.1:p.Gln132ArgfsTer3
XR_001747952.2:n.1210del
XR_001747953.2:n.1402del
XR_001747954.2:n.1402del
XR_001748245.1:n.1267del
XR_002957249.1:n.506-230del
NM_004183.4:c.712del MANE Select	NP_004174.1:p.Gln238ArgfsTer3
NM_001139443.2:c.532del	NP_001132915.1:p.Gln178ArgfsTer3
NM_001300786.2:c.532del	NP_001287715.1:p.Gln178ArgfsTer3
NM_001300787.2:c.532del	NP_001287716.1:p.Gln178ArgfsTer3
NM_001363591.2:c.394del	NP_001350520.1:p.Gln132ArgfsTer3
NM_001363593.2:c.-464del	NP_001350522.1:n.-464del
NR_134580.2:n.825del