Canonical Allele Identifier: CA599525067

Gene: BEST1

Linked Data

• dbSNP Id: rs1303236342
• gnomAD v2: 11-61723469-G-GC
• gnomAD v4: 11-61955997-G-GC
• MyVariant Identifiers: chr11:g.61723469_61723470insC (hg19) ; chr11:g.61955997_61955998insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955999dup , CM000673.2:g.61955999dup	GRCh38
NC_000011.9:g.61723471dup , CM000673.1:g.61723471dup	GRCh37
NC_000011.8:g.61480047dup	NCBI36
NG_009033.1:g.11116dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.481+48dup MANE Select	ENSP00000367282.4:n.481+48dup
ENST00000378043.8:c.481+48dup	ENSP00000367282.4:n.481+48dup
ENST00000449131.6:c.301+48dup	ENSP00000399709.2:n.301+48dup
ENST00000524877.5:n.913+48dup
ENST00000524926.5:c.481+48dup	ENSP00000432681.1:n.481+48dup
ENST00000526988.1:c.163+48dup	ENSP00000433195.1:n.163+48dup
ENST00000529265.5:n.404+48dup
ENST00000533521.5:n.1105+48dup
ENST00000534553.5:c.163+48dup	ENSP00000431189.1:n.163+48dup
NM_001139443.1:c.301+48dup	NP_001132915.1:n.301+48dup
NM_001300786.1:c.301+48dup	NP_001287715.1:n.301+48dup
NM_001300787.1:c.301+48dup	NP_001287716.1:n.301+48dup
NM_004183.3:c.481+48dup	NP_004174.1:n.481+48dup
XM_005274210.2:c.481+48dup	XP_005274267.1:n.481+48dup
XM_005274215.2:c.163+48dup	XP_005274272.1:n.163+48dup
XM_005274216.2:c.301+48dup	XP_005274273.1:n.301+48dup
XM_005274218.3:c.163+48dup	XP_005274275.1:n.163+48dup
XM_005274219.2:c.481+48dup	XP_005274276.1:n.481+48dup
XM_005274221.2:c.481+48dup	XP_005274278.1:n.481+48dup
XM_011545229.1:c.481+48dup	XP_011543531.1:n.481+48dup
XM_011545230.1:c.388+48dup	XP_011543532.1:n.388+48dup
XM_011545231.1:c.163+48dup	XP_011543533.1:n.163+48dup
XM_011545232.1:c.481+48dup	XP_011543534.1:n.481+48dup
NM_001363591.1:c.163+48dup	NP_001350520.1:n.163+48dup
NM_001363592.1:c.481+48dup	NP_001350521.1:n.481+48dup
NM_001363593.1:c.-695+48dup	NP_001350522.1:n.-695+48dup
NR_134580.1:n.1061+48dup
XM_005274210.4:c.481+48dup	XP_005274267.1:n.481+48dup
XM_005274215.4:c.163+48dup	XP_005274272.1:n.163+48dup
XM_005274216.4:c.301+48dup	XP_005274273.1:n.301+48dup
XM_005274219.4:c.481+48dup	XP_005274276.1:n.481+48dup
XM_005274221.4:c.481+48dup	XP_005274278.1:n.481+48dup
XM_011545229.3:c.481+48dup	XP_011543531.1:n.481+48dup
XM_011545230.3:c.388+48dup	XP_011543532.1:n.388+48dup
XM_017018230.2:c.163+48dup	XP_016873719.1:n.163+48dup
XR_001747952.2:n.979+48dup
XR_001747953.2:n.1171+48dup
XR_001747954.2:n.1171+48dup
XR_002957249.1:n.1740dup
NM_004183.4:c.481+48dup MANE Select	NP_004174.1:n.481+48dup
NM_001139443.2:c.301+48dup	NP_001132915.1:n.301+48dup
NM_001300786.2:c.301+48dup	NP_001287715.1:n.301+48dup
NM_001300787.2:c.301+48dup	NP_001287716.1:n.301+48dup
NM_001363591.2:c.163+48dup	NP_001350520.1:n.163+48dup
NM_001363593.2:c.-695+48dup	NP_001350522.1:n.-695+48dup
NR_134580.2:n.594+48dup