Canonical Allele Identifier: CA2613923788

Gene: BEST1

Linked Data

• gnomAD v4: 11-61955408-CAATGAAAACCCCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955409_61955423del , CM000673.2:g.61955409_61955423del	GRCh38
NC_000011.9:g.61722881_61722895del , CM000673.1:g.61722881_61722895del	GRCh37
NC_000011.8:g.61479457_61479471del	NCBI36
NG_009033.1:g.10526_10540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.247+208_247+222del MANE Select	ENSP00000367282.4:n.247+208_247+222del
ENST00000378043.8:c.247+208_247+222del	ENSP00000367282.4:n.247+208_247+222del
ENST00000449131.6:c.67+208_67+222del	ENSP00000399709.2:n.67+208_67+222del
ENST00000524877.5:n.371_385del
ENST00000524926.5:c.247+208_247+222del	ENSP00000432681.1:n.247+208_247+222del
ENST00000526988.1:c.-72+22_-72+36del	ENSP00000433195.1:n.-72+22_-72+36del
ENST00000529265.5:n.170+208_170+222del
ENST00000533521.5:n.563_577del
ENST00000534553.5:c.-72+22_-72+36del	ENSP00000431189.1:n.-72+22_-72+36del
NM_001139443.1:c.67+208_67+222del	NP_001132915.1:n.67+208_67+222del
NM_001300786.1:c.67+208_67+222del	NP_001287715.1:n.67+208_67+222del
NM_001300787.1:c.67+208_67+222del	NP_001287716.1:n.67+208_67+222del
NM_004183.3:c.247+208_247+222del	NP_004174.1:n.247+208_247+222del
XM_005274210.2:c.247+208_247+222del	XP_005274267.1:n.247+208_247+222del
XM_005274215.2:c.-72+22_-72+36del	XP_005274272.1:n.-72+22_-72+36del
XM_005274216.2:c.67+208_67+222del	XP_005274273.1:n.67+208_67+222del
XM_005274218.3:c.-72+22_-72+36del	XP_005274275.1:n.-72+22_-72+36del
XM_005274219.2:c.247+208_247+222del	XP_005274276.1:n.247+208_247+222del
XM_005274221.2:c.247+208_247+222del	XP_005274278.1:n.247+208_247+222del
XM_011545229.1:c.247+208_247+222del	XP_011543531.1:n.247+208_247+222del
XM_011545230.1:c.154+208_154+222del	XP_011543532.1:n.154+208_154+222del
XM_011545231.1:c.-72+22_-72+36del	XP_011543533.1:n.-72+22_-72+36del
XM_011545232.1:c.247+208_247+222del	XP_011543534.1:n.247+208_247+222del
NM_001363591.1:c.-72+22_-72+36del	NP_001350520.1:n.-72+22_-72+36del
NM_001363592.1:c.247+208_247+222del	NP_001350521.1:n.247+208_247+222del
NM_001363593.1:c.-929+22_-929+36del	NP_001350522.1:n.-929+22_-929+36del
NR_134580.1:n.827+208_827+222del
XM_005274210.4:c.247+208_247+222del	XP_005274267.1:n.247+208_247+222del
XM_005274215.4:c.-72+22_-72+36del	XP_005274272.1:n.-72+22_-72+36del
XM_005274216.4:c.67+208_67+222del	XP_005274273.1:n.67+208_67+222del
XM_005274219.4:c.247+208_247+222del	XP_005274276.1:n.247+208_247+222del
XM_005274221.4:c.247+208_247+222del	XP_005274278.1:n.247+208_247+222del
XM_011545229.3:c.247+208_247+222del	XP_011543531.1:n.247+208_247+222del
XM_011545230.3:c.154+208_154+222del	XP_011543532.1:n.154+208_154+222del
XM_017018230.2:c.-72+22_-72+36del	XP_016873719.1:n.-72+22_-72+36del
XR_001747952.2:n.745+208_745+222del
XR_001747953.2:n.937+208_937+222del
XR_001747954.2:n.937+208_937+222del
XR_002957249.1:n.2315_2329del
NM_004183.4:c.247+208_247+222del MANE Select	NP_004174.1:n.247+208_247+222del
NM_001139443.2:c.67+208_67+222del	NP_001132915.1:n.67+208_67+222del
NM_001300786.2:c.67+208_67+222del	NP_001287715.1:n.67+208_67+222del
NM_001300787.2:c.67+208_67+222del	NP_001287716.1:n.67+208_67+222del
NM_001363591.2:c.-72+22_-72+36del	NP_001350520.1:n.-72+22_-72+36del
NM_001363593.2:c.-929+22_-929+36del	NP_001350522.1:n.-929+22_-929+36del
NR_134580.2:n.360+208_360+222del