Canonical Allele Identifier: CA2613922589

Gene: BEST1

Linked Data

• gnomAD v4: 11-61958000-AGGGGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958001_61958006del , CM000673.2:g.61958001_61958006del	GRCh38
NC_000011.9:g.61725473_61725478del , CM000673.1:g.61725473_61725478del	GRCh37
NC_000011.8:g.61482049_61482054del	NCBI36
NG_009033.1:g.13118_13123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.715-145_715-140del MANE Select	ENSP00000367282.4:n.715-145_715-140del
ENST00000378043.8:c.715-145_715-140del	ENSP00000367282.4:n.715-145_715-140del
ENST00000449131.6:c.535-145_535-140del	ENSP00000399709.2:n.535-145_535-140del
ENST00000524877.5:n.1147-145_1147-140del
ENST00000524926.5:c.715-145_715-140del	ENSP00000432681.1:n.715-145_715-140del
ENST00000526988.1:c.397-145_397-140del	ENSP00000433195.1:n.397-145_397-140del
ENST00000529265.5:n.638-145_638-140del
ENST00000534553.5:c.163+2050_163+2055del	ENSP00000431189.1:n.163+2050_163+2055del
NM_001139443.1:c.535-145_535-140del	NP_001132915.1:n.535-145_535-140del
NM_001300786.1:c.535-145_535-140del	NP_001287715.1:n.535-145_535-140del
NM_001300787.1:c.535-145_535-140del	NP_001287716.1:n.535-145_535-140del
NM_004183.3:c.715-145_715-140del	NP_004174.1:n.715-145_715-140del
XM_005274210.2:c.715-145_715-140del	XP_005274267.1:n.715-145_715-140del
XM_005274215.2:c.397-145_397-140del	XP_005274272.1:n.397-145_397-140del
XM_005274216.2:c.535-145_535-140del	XP_005274273.1:n.535-145_535-140del
XM_005274218.3:c.397-145_397-140del	XP_005274275.1:n.397-145_397-140del
XM_005274219.2:c.715-145_715-140del	XP_005274276.1:n.715-145_715-140del
XM_005274221.2:c.714+537_714+542del	XP_005274278.1:n.714+537_714+542del
XM_011545229.1:c.715-145_715-140del	XP_011543531.1:n.715-145_715-140del
XM_011545230.1:c.622-145_622-140del	XP_011543532.1:n.622-145_622-140del
XM_011545231.1:c.397-145_397-140del	XP_011543533.1:n.397-145_397-140del
XM_011545232.1:c.715-145_715-140del	XP_011543534.1:n.715-145_715-140del
NM_001363591.1:c.397-145_397-140del	NP_001350520.1:n.397-145_397-140del
NM_001363592.1:c.715-145_715-140del	NP_001350521.1:n.715-145_715-140del
NM_001363593.1:c.-461-145_-461-140del	NP_001350522.1:n.-461-145_-461-140del
NR_134580.1:n.1295-145_1295-140del
XM_005274210.4:c.715-145_715-140del	XP_005274267.1:n.715-145_715-140del
XM_005274215.4:c.397-145_397-140del	XP_005274272.1:n.397-145_397-140del
XM_005274216.4:c.535-145_535-140del	XP_005274273.1:n.535-145_535-140del
XM_005274219.4:c.715-145_715-140del	XP_005274276.1:n.715-145_715-140del
XM_005274221.4:c.714+537_714+542del	XP_005274278.1:n.714+537_714+542del
XM_011545229.3:c.715-145_715-140del	XP_011543531.1:n.715-145_715-140del
XM_011545230.3:c.622-145_622-140del	XP_011543532.1:n.622-145_622-140del
XM_017018230.2:c.397-145_397-140del	XP_016873719.1:n.397-145_397-140del
XR_001747952.2:n.1213-145_1213-140del
XR_001747953.2:n.1405-145_1405-140del
XR_001747954.2:n.1404+537_1404+542del
XR_001748245.1:n.723_728del
XR_002957249.1:n.505+218_505+223del
NM_004183.4:c.715-145_715-140del MANE Select	NP_004174.1:n.715-145_715-140del
NM_001139443.2:c.535-145_535-140del	NP_001132915.1:n.535-145_535-140del
NM_001300786.2:c.535-145_535-140del	NP_001287715.1:n.535-145_535-140del
NM_001300787.2:c.535-145_535-140del	NP_001287716.1:n.535-145_535-140del
NM_001363591.2:c.397-145_397-140del	NP_001350520.1:n.397-145_397-140del
NM_001363593.2:c.-461-145_-461-140del	NP_001350522.1:n.-461-145_-461-140del
NR_134580.2:n.828-145_828-140del