Canonical Allele Identifier: CA678988215

Gene: BEST1

Linked Data

• dbSNP Id: rs1167163848
• gnomAD v3: 11-61950290-ACGG-A
• gnomAD v4: 11-61950290-ACGG-A
• MyVariant Identifiers: chr11:g.61717763_61717765del (hg19) ; chr11:g.61950291_61950293del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950295_61950297del , CM000673.2:g.61950295_61950297del	GRCh38
NC_000011.9:g.61717767_61717769del , CM000673.1:g.61717767_61717769del	GRCh37
NC_000011.8:g.61474343_61474345del	NCBI36
NG_009033.1:g.5412_5414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-169_-167del	ENSP00000367282.4:n.-169_-167del
ENST00000534553.5:c.-344_-342del	ENSP00000431189.1:n.-344_-342del
NM_001139443.1:c.-161_-159del	NP_001132915.1:n.-161_-159del
NM_001300786.1:c.-161_-159del	NP_001287715.1:n.-161_-159del
NM_001300787.1:c.-161_-159del	NP_001287716.1:n.-161_-159del
NM_004183.3:c.-169_-167del	NP_004174.1:n.-169_-167del
XM_005274210.2:c.-169_-167del	XP_005274267.1:n.-169_-167del
XM_005274216.2:c.-161_-159del	XP_005274273.1:n.-161_-159del
XM_005274218.3:c.-344_-342del	XP_005274275.1:n.-344_-342del
XM_005274219.2:c.-169_-167del	XP_005274276.1:n.-169_-167del
XM_005274221.2:c.-169_-167del	XP_005274278.1:n.-169_-167del
XM_011545229.1:c.-36-1476_-36-1474del	XP_011543531.1:n.-36-1476_-36-1474del
XM_011545230.1:c.59+3480_59+3482del	XP_011543532.1:n.59+3480_59+3482del
XM_011545231.1:c.-344_-342del	XP_011543533.1:n.-344_-342del
XM_011545232.1:c.-169_-167del	XP_011543534.1:n.-169_-167del
NM_001363592.1:c.-169_-167del	NP_001350521.1:n.-169_-167del
NR_134580.1:n.412_414del
XM_005274210.4:c.-169_-167del	XP_005274267.1:n.-169_-167del
XM_005274216.4:c.-161_-159del	XP_005274273.1:n.-161_-159del
XM_005274219.4:c.-169_-167del	XP_005274276.1:n.-169_-167del
XM_005274221.4:c.-169_-167del	XP_005274278.1:n.-169_-167del
XM_011545229.3:c.-36-1476_-36-1474del	XP_011543531.1:n.-36-1476_-36-1474del
XM_011545230.3:c.59+3480_59+3482del	XP_011543532.1:n.59+3480_59+3482del
XR_001747952.2:n.518_520del
XR_001747953.2:n.522_524del
XR_001747954.2:n.522_524del