Canonical Allele Identifier: CA1977530657

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957365_61957366delinsAT , CM000673.2:g.61957365_61957366delinsAT	GRCh38
NC_000011.9:g.61724837_61724838delinsAT , CM000673.1:g.61724837_61724838delinsAT	GRCh37
NC_000011.8:g.61481413_61481414delinsAT	NCBI36
NG_009033.1:g.12482_12483delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.637-22_637-21delinsAT MANE Select	ENSP00000367282.4:n.637-22_637-21delinsAT...
ENST00000378043.8:c.637-22_637-21delinsAT	ENSP00000367282.4:n.637-22_637-21delinsAT...
ENST00000449131.6:c.457-22_457-21delinsAT	ENSP00000399709.2:n.457-22_457-21delinsAT...
ENST00000524877.5:n.1069-22_1069-21delinsAT
ENST00000524926.5:c.637-22_637-21delinsAT	ENSP00000432681.1:n.637-22_637-21delinsAT...
ENST00000526988.1:c.319-22_319-21delinsAT	ENSP00000433195.1:n.319-22_319-21delinsAT...
ENST00000529265.5:n.560-22_560-21delinsAT
ENST00000534553.5:c.163+1414_163+1415delinsAT	ENSP00000431189.1:n.163+1414_163+1415deli...
NM_001139443.1:c.457-22_457-21delinsAT	NP_001132915.1:n.457-22_457-21delinsAT
NM_001300786.1:c.457-22_457-21delinsAT	NP_001287715.1:n.457-22_457-21delinsAT
NM_001300787.1:c.457-22_457-21delinsAT	NP_001287716.1:n.457-22_457-21delinsAT
NM_004183.3:c.637-22_637-21delinsAT	NP_004174.1:n.637-22_637-21delinsAT
XM_005274210.2:c.637-22_637-21delinsAT	XP_005274267.1:n.637-22_637-21delinsAT
XM_005274215.2:c.319-22_319-21delinsAT	XP_005274272.1:n.319-22_319-21delinsAT
XM_005274216.2:c.457-22_457-21delinsAT	XP_005274273.1:n.457-22_457-21delinsAT
XM_005274218.3:c.319-22_319-21delinsAT	XP_005274275.1:n.319-22_319-21delinsAT
XM_005274219.2:c.637-22_637-21delinsAT	XP_005274276.1:n.637-22_637-21delinsAT
XM_005274221.2:c.637-22_637-21delinsAT	XP_005274278.1:n.637-22_637-21delinsAT
XM_011545229.1:c.637-22_637-21delinsAT	XP_011543531.1:n.637-22_637-21delinsAT
XM_011545230.1:c.544-22_544-21delinsAT	XP_011543532.1:n.544-22_544-21delinsAT
XM_011545231.1:c.319-22_319-21delinsAT	XP_011543533.1:n.319-22_319-21delinsAT
XM_011545232.1:c.637-22_637-21delinsAT	XP_011543534.1:n.637-22_637-21delinsAT
NM_001363591.1:c.319-22_319-21delinsAT	NP_001350520.1:n.319-22_319-21delinsAT
NM_001363592.1:c.637-22_637-21delinsAT	NP_001350521.1:n.637-22_637-21delinsAT
NM_001363593.1:c.-539-22_-539-21delinsAT	NP_001350522.1:n.-539-22_-539-21delinsAT
NR_134580.1:n.1217-22_1217-21delinsAT
XM_005274210.4:c.637-22_637-21delinsAT	XP_005274267.1:n.637-22_637-21delinsAT
XM_005274215.4:c.319-22_319-21delinsAT	XP_005274272.1:n.319-22_319-21delinsAT
XM_005274216.4:c.457-22_457-21delinsAT	XP_005274273.1:n.457-22_457-21delinsAT
XM_005274219.4:c.637-22_637-21delinsAT	XP_005274276.1:n.637-22_637-21delinsAT
XM_005274221.4:c.637-22_637-21delinsAT	XP_005274278.1:n.637-22_637-21delinsAT
XM_011545229.3:c.637-22_637-21delinsAT	XP_011543531.1:n.637-22_637-21delinsAT
XM_011545230.3:c.544-22_544-21delinsAT	XP_011543532.1:n.544-22_544-21delinsAT
XM_017018230.2:c.319-22_319-21delinsAT	XP_016873719.1:n.319-22_319-21delinsAT
XR_001747952.2:n.1135-22_1135-21delinsAT
XR_001747953.2:n.1327-22_1327-21delinsAT
XR_001747954.2:n.1327-22_1327-21delinsAT
XR_001748245.1:n.1363_1364delinsAT
XR_002957249.1:n.506-134_506-133delinsAT
NM_004183.4:c.637-22_637-21delinsAT MANE Select	NP_004174.1:n.637-22_637-21delinsAT
NM_001139443.2:c.457-22_457-21delinsAT	NP_001132915.1:n.457-22_457-21delinsAT
NM_001300786.2:c.457-22_457-21delinsAT	NP_001287715.1:n.457-22_457-21delinsAT
NM_001300787.2:c.457-22_457-21delinsAT	NP_001287716.1:n.457-22_457-21delinsAT
NM_001363591.2:c.319-22_319-21delinsAT	NP_001350520.1:n.319-22_319-21delinsAT
NM_001363593.2:c.-539-22_-539-21delinsAT	NP_001350522.1:n.-539-22_-539-21delinsAT
NR_134580.2:n.750-22_750-21delinsAT