Canonical Allele Identifier: CA2613922682

Gene: BEST1

Linked Data

• gnomAD v4: 11-61958056-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958059_61958061del , CM000673.2:g.61958059_61958061del	GRCh38
NC_000011.9:g.61725531_61725533del , CM000673.1:g.61725531_61725533del	GRCh37
NC_000011.8:g.61482107_61482109del	NCBI36
NG_009033.1:g.13176_13178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.715-87_715-85del MANE Select	ENSP00000367282.4:n.715-87_715-85del
ENST00000378043.8:c.715-87_715-85del	ENSP00000367282.4:n.715-87_715-85del
ENST00000449131.6:c.535-87_535-85del	ENSP00000399709.2:n.535-87_535-85del
ENST00000524877.5:n.1147-87_1147-85del
ENST00000524926.5:c.715-87_715-85del	ENSP00000432681.1:n.715-87_715-85del
ENST00000526988.1:c.397-87_397-85del	ENSP00000433195.1:n.397-87_397-85del
ENST00000529265.5:n.638-87_638-85del
ENST00000534553.5:c.163+2108_163+2110del	ENSP00000431189.1:n.163+2108_163+2110del
NM_001139443.1:c.535-87_535-85del	NP_001132915.1:n.535-87_535-85del
NM_001300786.1:c.535-87_535-85del	NP_001287715.1:n.535-87_535-85del
NM_001300787.1:c.535-87_535-85del	NP_001287716.1:n.535-87_535-85del
NM_004183.3:c.715-87_715-85del	NP_004174.1:n.715-87_715-85del
XM_005274210.2:c.715-87_715-85del	XP_005274267.1:n.715-87_715-85del
XM_005274215.2:c.397-87_397-85del	XP_005274272.1:n.397-87_397-85del
XM_005274216.2:c.535-87_535-85del	XP_005274273.1:n.535-87_535-85del
XM_005274218.3:c.397-87_397-85del	XP_005274275.1:n.397-87_397-85del
XM_005274219.2:c.715-87_715-85del	XP_005274276.1:n.715-87_715-85del
XM_005274221.2:c.714+595_714+597del	XP_005274278.1:n.714+595_714+597del
XM_011545229.1:c.715-87_715-85del	XP_011543531.1:n.715-87_715-85del
XM_011545230.1:c.622-87_622-85del	XP_011543532.1:n.622-87_622-85del
XM_011545231.1:c.397-87_397-85del	XP_011543533.1:n.397-87_397-85del
XM_011545232.1:c.715-87_715-85del	XP_011543534.1:n.715-87_715-85del
NM_001363591.1:c.397-87_397-85del	NP_001350520.1:n.397-87_397-85del
NM_001363592.1:c.715-87_715-85del	NP_001350521.1:n.715-87_715-85del
NM_001363593.1:c.-461-87_-461-85del	NP_001350522.1:n.-461-87_-461-85del
NR_134580.1:n.1295-87_1295-85del
XM_005274210.4:c.715-87_715-85del	XP_005274267.1:n.715-87_715-85del
XM_005274215.4:c.397-87_397-85del	XP_005274272.1:n.397-87_397-85del
XM_005274216.4:c.535-87_535-85del	XP_005274273.1:n.535-87_535-85del
XM_005274219.4:c.715-87_715-85del	XP_005274276.1:n.715-87_715-85del
XM_005274221.4:c.714+595_714+597del	XP_005274278.1:n.714+595_714+597del
XM_011545229.3:c.715-87_715-85del	XP_011543531.1:n.715-87_715-85del
XM_011545230.3:c.622-87_622-85del	XP_011543532.1:n.622-87_622-85del
XM_017018230.2:c.397-87_397-85del	XP_016873719.1:n.397-87_397-85del
XR_001747952.2:n.1213-87_1213-85del
XR_001747953.2:n.1405-87_1405-85del
XR_001747954.2:n.1404+595_1404+597del
XR_001748245.1:n.670_672del
XR_002957249.1:n.505+165_505+167del
NM_004183.4:c.715-87_715-85del MANE Select	NP_004174.1:n.715-87_715-85del
NM_001139443.2:c.535-87_535-85del	NP_001132915.1:n.535-87_535-85del
NM_001300786.2:c.535-87_535-85del	NP_001287715.1:n.535-87_535-85del
NM_001300787.2:c.535-87_535-85del	NP_001287716.1:n.535-87_535-85del
NM_001363591.2:c.397-87_397-85del	NP_001350520.1:n.397-87_397-85del
NM_001363593.2:c.-461-87_-461-85del	NP_001350522.1:n.-461-87_-461-85del
NR_134580.2:n.828-87_828-85del