Canonical Allele Identifier: CA599524921

Gene: BEST1

Linked Data

• dbSNP Id: rs1290155841
• gnomAD v2: 11-61723241-TGCCGTGGCCCGACCGCCTCATGA-T
• gnomAD v3: 11-61955769-TGCCGTGGCCCGACCGCCTCATGA-T
• gnomAD v4: 11-61955769-TGCCGTGGCCCGACCGCCTCATGA-T
• MyVariant Identifiers: chr11:g.61723242_61723264del (hg19) ; chr11:g.61955770_61955792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955773_61955795del , CM000673.2:g.61955773_61955795del	GRCh38
NC_000011.9:g.61723245_61723267del , CM000673.1:g.61723245_61723267del	GRCh37
NC_000011.8:g.61479821_61479843del	NCBI36
NG_009033.1:g.10890_10912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.303_325del MANE Select	ENSP00000367282.4:p.Trp102GlyfsTer?
ENST00000378043.8:c.303_325del	ENSP00000367282.4:p.Trp102GlyfsTer?
ENST00000449131.6:c.123_145del	ENSP00000399709.2:p.Trp42GlyfsTer?
ENST00000524877.5:n.735_757del
ENST00000524926.5:c.303_325del	ENSP00000432681.1:p.Trp102GlyfsTer?
ENST00000526988.1:c.-16_7del
ENST00000529265.5:n.226_248del
ENST00000533521.5:n.927_949del
ENST00000534553.5:c.-16_7del
NM_001139443.1:c.123_145del	NP_001132915.1:p.Trp42GlyfsTer?
NM_001300786.1:c.123_145del	NP_001287715.1:p.Trp42GlyfsTer?
NM_001300787.1:c.123_145del	NP_001287716.1:p.Trp42GlyfsTer?
NM_004183.3:c.303_325del	NP_004174.1:p.Trp102GlyfsTer?
XM_005274210.2:c.303_325del	XP_005274267.1:p.Trp102GlyfsTer?
XM_005274215.2:c.-16_7del
XM_005274216.2:c.123_145del	XP_005274273.1:p.Trp42GlyfsTer?
XM_005274218.3:c.-16_7del
XM_005274219.2:c.303_325del	XP_005274276.1:p.Trp102GlyfsTer?
XM_005274221.2:c.303_325del	XP_005274278.1:p.Trp102GlyfsTer?
XM_011545229.1:c.303_325del	XP_011543531.1:p.Trp102GlyfsTer?
XM_011545230.1:c.210_232del	XP_011543532.1:p.Trp71GlyfsTer?
XM_011545231.1:c.-16_7del
XM_011545232.1:c.303_325del	XP_011543534.1:p.Trp102GlyfsTer?
NM_001363591.1:c.-16_7del
NM_001363592.1:c.303_325del	NP_001350521.1:p.Trp102GlyfsTer?
NM_001363593.1:c.-873_-851del	NP_001350522.1:n.-873_-851del
NR_134580.1:n.883_905del
XM_005274210.4:c.303_325del	XP_005274267.1:p.Trp102GlyfsTer?
XM_005274215.4:c.-16_7del
XM_005274216.4:c.123_145del	XP_005274273.1:p.Trp42GlyfsTer?
XM_005274219.4:c.303_325del	XP_005274276.1:p.Trp102GlyfsTer?
XM_005274221.4:c.303_325del	XP_005274278.1:p.Trp102GlyfsTer?
XM_011545229.3:c.303_325del	XP_011543531.1:p.Trp102GlyfsTer?
XM_011545230.3:c.210_232del	XP_011543532.1:p.Trp71GlyfsTer?
XM_017018230.2:c.-16_7del
XR_001747952.2:n.801_823del
XR_001747953.2:n.993_1015del
XR_001747954.2:n.993_1015del
XR_002957249.1:n.1946_1968del
NM_004183.4:c.303_325del MANE Select	NP_004174.1:p.Trp102GlyfsTer?
NM_001139443.2:c.123_145del	NP_001132915.1:p.Trp42GlyfsTer?
NM_001300786.2:c.123_145del	NP_001287715.1:p.Trp42GlyfsTer?
NM_001300787.2:c.123_145del	NP_001287716.1:p.Trp42GlyfsTer?
NM_001363591.2:c.-16_7del
NM_001363593.2:c.-873_-851del	NP_001350522.1:n.-873_-851del
NR_134580.2:n.416_438del