Canonical Allele Identifier: CA1977558487

Gene: BEST1

Linked Data

• dbSNP Id: rs1940501330

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950114_61950129dup , CM000673.2:g.61950114_61950129dup	GRCh38
NC_000011.9:g.61717586_61717601dup , CM000673.1:g.61717586_61717601dup	GRCh37
NC_000011.8:g.61474162_61474177dup	NCBI36
NG_009033.1:g.5231_5246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-350_-335dup	ENSP00000367282.4:n.-350_-335dup
ENST00000534553.5:c.-525_-510dup	ENSP00000431189.1:n.-525_-510dup
NM_001139443.1:c.-342_-327dup	NP_001132915.1:n.-342_-327dup
NM_001300786.1:c.-342_-327dup	NP_001287715.1:n.-342_-327dup
NM_001300787.1:c.-342_-327dup	NP_001287716.1:n.-342_-327dup
NM_004183.3:c.-350_-335dup	NP_004174.1:n.-350_-335dup
XM_005274210.2:c.-350_-335dup	XP_005274267.1:n.-350_-335dup
XM_005274216.2:c.-342_-327dup	XP_005274273.1:n.-342_-327dup
XM_005274218.3:c.-525_-510dup	XP_005274275.1:n.-525_-510dup
XM_005274219.2:c.-350_-335dup	XP_005274276.1:n.-350_-335dup
XM_005274221.2:c.-350_-335dup	XP_005274278.1:n.-350_-335dup
XM_011545229.1:c.-36-1657_-36-1642dup	XP_011543531.1:n.-36-1657_-36-1642dup
XM_011545230.1:c.59+3299_59+3314dup	XP_011543532.1:n.59+3299_59+3314dup
XM_011545231.1:c.-525_-510dup	XP_011543533.1:n.-525_-510dup
XM_011545232.1:c.-350_-335dup	XP_011543534.1:n.-350_-335dup
NM_001363592.1:c.-350_-335dup	NP_001350521.1:n.-350_-335dup
NR_134580.1:n.231_246dup
XM_005274210.4:c.-350_-335dup	XP_005274267.1:n.-350_-335dup
XM_005274216.4:c.-342_-327dup	XP_005274273.1:n.-342_-327dup
XM_005274219.4:c.-350_-335dup	XP_005274276.1:n.-350_-335dup
XM_005274221.4:c.-350_-335dup	XP_005274278.1:n.-350_-335dup
XM_011545229.3:c.-36-1657_-36-1642dup	XP_011543531.1:n.-36-1657_-36-1642dup
XM_011545230.3:c.59+3299_59+3314dup	XP_011543532.1:n.59+3299_59+3314dup
XR_001747952.2:n.337_352dup
XR_001747953.2:n.341_356dup
XR_001747954.2:n.341_356dup