Canonical Allele Identifier: CA227780
Gene: BEST1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2736
dbSNP Id: rs1800995

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955906_61955907delinsAA , CM000673.2:g.61955906_61955907delinsAA GRCh38
NC_000011.8:g.61479954_61479955delinsAA NCBI36
NC_000011.9:g.61723378_61723379delinsAA , CM000673.1:g.61723378_61723379delinsAA GRCh37
NG_009033.1:g.11023_11024delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000378043.8:c.436_437delinsAA ENSP00000367282.4:p.Ala146Lys
ENST00000449131.6:c.256_257delinsAA ENSP00000399709.2:p.Ala86Lys
ENST00000524877.5:n.868_869delinsAA
ENST00000524926.5:c.436_437delinsAA ENSP00000432681.1:p.Ala146Lys
ENST00000526988.1:c.118_119delinsAA ENSP00000433195.1:p.Ala40Lys
ENST00000529265.5:n.359_360delinsAA
ENST00000533521.5:n.1060_1061delinsAA
ENST00000534553.5:c.118_119delinsAA ENSP00000431189.1:p.Ala40Lys
NM_001139443.1:c.256_257delinsAA NP_001132915.1:p.Ala86Lys
NM_001300786.1:c.256_257delinsAA NP_001287715.1:p.Ala86Lys
NM_001300787.1:c.256_257delinsAA NP_001287716.1:p.Ala86Lys
NM_004183.3:c.436_437delinsAA NP_004174.1:p.Ala146Lys
XM_005274210.2:c.436_437delinsAA XP_005274267.1:p.Ala146Lys
XM_005274215.2:c.118_119delinsAA XP_005274272.1:p.Ala40Lys
XM_005274216.2:c.256_257delinsAA XP_005274273.1:p.Ala86Lys
XM_005274218.3:c.118_119delinsAA XP_005274275.1:p.Ala40Lys
XM_005274219.2:c.436_437delinsAA XP_005274276.1:p.Ala146Lys
XM_005274221.2:c.436_437delinsAA XP_005274278.1:p.Ala146Lys
XM_011545229.1:c.436_437delinsAA XP_011543531.1:p.Ala146Lys
XM_011545230.1:c.343_344delinsAA XP_011543532.1:p.Ala115Lys
XM_011545231.1:c.118_119delinsAA XP_011543533.1:p.Ala40Lys
XM_011545232.1:c.436_437delinsAA XP_011543534.1:p.Ala146Lys