Canonical Allele Identifier: CA2613923800

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955416-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955419_61955420del , CM000673.2:g.61955419_61955420del	GRCh38
NC_000011.9:g.61722891_61722892del , CM000673.1:g.61722891_61722892del	GRCh37
NC_000011.8:g.61479467_61479468del	NCBI36
NG_009033.1:g.10536_10537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.247+218_247+219del MANE Select	ENSP00000367282.4:n.247+218_247+219del
ENST00000378043.8:c.247+218_247+219del	ENSP00000367282.4:n.247+218_247+219del
ENST00000449131.6:c.67+218_67+219del	ENSP00000399709.2:n.67+218_67+219del
ENST00000524877.5:n.381_382del
ENST00000524926.5:c.247+218_247+219del	ENSP00000432681.1:n.247+218_247+219del
ENST00000526988.1:c.-72+32_-72+33del	ENSP00000433195.1:n.-72+32_-72+33del
ENST00000529265.5:n.170+218_170+219del
ENST00000533521.5:n.573_574del
ENST00000534553.5:c.-72+32_-72+33del	ENSP00000431189.1:n.-72+32_-72+33del
NM_001139443.1:c.67+218_67+219del	NP_001132915.1:n.67+218_67+219del
NM_001300786.1:c.67+218_67+219del	NP_001287715.1:n.67+218_67+219del
NM_001300787.1:c.67+218_67+219del	NP_001287716.1:n.67+218_67+219del
NM_004183.3:c.247+218_247+219del	NP_004174.1:n.247+218_247+219del
XM_005274210.2:c.247+218_247+219del	XP_005274267.1:n.247+218_247+219del
XM_005274215.2:c.-72+32_-72+33del	XP_005274272.1:n.-72+32_-72+33del
XM_005274216.2:c.67+218_67+219del	XP_005274273.1:n.67+218_67+219del
XM_005274218.3:c.-72+32_-72+33del	XP_005274275.1:n.-72+32_-72+33del
XM_005274219.2:c.247+218_247+219del	XP_005274276.1:n.247+218_247+219del
XM_005274221.2:c.247+218_247+219del	XP_005274278.1:n.247+218_247+219del
XM_011545229.1:c.247+218_247+219del	XP_011543531.1:n.247+218_247+219del
XM_011545230.1:c.154+218_154+219del	XP_011543532.1:n.154+218_154+219del
XM_011545231.1:c.-72+32_-72+33del	XP_011543533.1:n.-72+32_-72+33del
XM_011545232.1:c.247+218_247+219del	XP_011543534.1:n.247+218_247+219del
NM_001363591.1:c.-72+32_-72+33del	NP_001350520.1:n.-72+32_-72+33del
NM_001363592.1:c.247+218_247+219del	NP_001350521.1:n.247+218_247+219del
NM_001363593.1:c.-929+32_-929+33del	NP_001350522.1:n.-929+32_-929+33del
NR_134580.1:n.827+218_827+219del
XM_005274210.4:c.247+218_247+219del	XP_005274267.1:n.247+218_247+219del
XM_005274215.4:c.-72+32_-72+33del	XP_005274272.1:n.-72+32_-72+33del
XM_005274216.4:c.67+218_67+219del	XP_005274273.1:n.67+218_67+219del
XM_005274219.4:c.247+218_247+219del	XP_005274276.1:n.247+218_247+219del
XM_005274221.4:c.247+218_247+219del	XP_005274278.1:n.247+218_247+219del
XM_011545229.3:c.247+218_247+219del	XP_011543531.1:n.247+218_247+219del
XM_011545230.3:c.154+218_154+219del	XP_011543532.1:n.154+218_154+219del
XM_017018230.2:c.-72+32_-72+33del	XP_016873719.1:n.-72+32_-72+33del
XR_001747952.2:n.745+218_745+219del
XR_001747953.2:n.937+218_937+219del
XR_001747954.2:n.937+218_937+219del
XR_002957249.1:n.2320_2321del
NM_004183.4:c.247+218_247+219del MANE Select	NP_004174.1:n.247+218_247+219del
NM_001139443.2:c.67+218_67+219del	NP_001132915.1:n.67+218_67+219del
NM_001300786.2:c.67+218_67+219del	NP_001287715.1:n.67+218_67+219del
NM_001300787.2:c.67+218_67+219del	NP_001287716.1:n.67+218_67+219del
NM_001363591.2:c.-72+32_-72+33del	NP_001350520.1:n.-72+32_-72+33del
NM_001363593.2:c.-929+32_-929+33del	NP_001350522.1:n.-929+32_-929+33del
NR_134580.2:n.360+218_360+219del