Canonical Allele Identifier: CA1977530819

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957461_61957462delinsAC , CM000673.2:g.61957461_61957462delinsAC	GRCh38
NC_000011.9:g.61724933_61724934delinsAC , CM000673.1:g.61724933_61724934delinsAC	GRCh37
NC_000011.8:g.61481509_61481510delinsAC	NCBI36
NG_009033.1:g.12578_12579delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.711_712delinsAC MANE Select	ENSP00000367282.4:p.Thr237=
ENST00000378043.8:c.711_712delinsAC	ENSP00000367282.4:p.Thr237=
ENST00000449131.6:c.531_532delinsAC	ENSP00000399709.2:p.Thr177=
ENST00000524877.5:n.1143_1144delinsAC
ENST00000524926.5:c.711_712delinsAC	ENSP00000432681.1:p.Thr237=
ENST00000526988.1:c.393_394delinsAC	ENSP00000433195.1:p.Thr131=
ENST00000529265.5:n.634_635delinsAC
ENST00000534553.5:c.163+1510_163+1511delinsAC	ENSP00000431189.1:n.163+1510_163+1511deli...
NM_001139443.1:c.531_532delinsAC	NP_001132915.1:p.Thr177=
NM_001300786.1:c.531_532delinsAC	NP_001287715.1:p.Thr177=
NM_001300787.1:c.531_532delinsAC	NP_001287716.1:p.Thr177=
NM_004183.3:c.711_712delinsAC	NP_004174.1:p.Thr237=
XM_005274210.2:c.711_712delinsAC	XP_005274267.1:p.Thr237=
XM_005274215.2:c.393_394delinsAC	XP_005274272.1:p.Thr131=
XM_005274216.2:c.531_532delinsAC	XP_005274273.1:p.Thr177=
XM_005274218.3:c.393_394delinsAC	XP_005274275.1:p.Thr131=
XM_005274219.2:c.711_712delinsAC	XP_005274276.1:p.Thr237=
XM_005274221.2:c.711_712delinsAC	XP_005274278.1:p.Thr237=
XM_011545229.1:c.711_712delinsAC	XP_011543531.1:p.Thr237=
XM_011545230.1:c.618_619delinsAC	XP_011543532.1:p.Thr206=
XM_011545231.1:c.393_394delinsAC	XP_011543533.1:p.Thr131=
XM_011545232.1:c.711_712delinsAC	XP_011543534.1:p.Thr237=
NM_001363591.1:c.393_394delinsAC	NP_001350520.1:p.Thr131=
NM_001363592.1:c.711_712delinsAC	NP_001350521.1:p.Thr237=
NM_001363593.1:c.-465_-464delinsAC	NP_001350522.1:n.-465_-464delinsAC
NR_134580.1:n.1291_1292delinsAC
XM_005274210.4:c.711_712delinsAC	XP_005274267.1:p.Thr237=
XM_005274215.4:c.393_394delinsAC	XP_005274272.1:p.Thr131=
XM_005274216.4:c.531_532delinsAC	XP_005274273.1:p.Thr177=
XM_005274219.4:c.711_712delinsAC	XP_005274276.1:p.Thr237=
XM_005274221.4:c.711_712delinsAC	XP_005274278.1:p.Thr237=
XM_011545229.3:c.711_712delinsAC	XP_011543531.1:p.Thr237=
XM_011545230.3:c.618_619delinsAC	XP_011543532.1:p.Thr206=
XM_017018230.2:c.393_394delinsAC	XP_016873719.1:p.Thr131=
XR_001747952.2:n.1209_1210delinsAC
XR_001747953.2:n.1401_1402delinsAC
XR_001747954.2:n.1401_1402delinsAC
XR_001748245.1:n.1267_1268delinsGT
XR_002957249.1:n.506-230_506-229delinsGT
NM_004183.4:c.711_712delinsAC MANE Select	NP_004174.1:p.Thr237=
NM_001139443.2:c.531_532delinsAC	NP_001132915.1:p.Thr177=
NM_001300786.2:c.531_532delinsAC	NP_001287715.1:p.Thr177=
NM_001300787.2:c.531_532delinsAC	NP_001287716.1:p.Thr177=
NM_001363591.2:c.393_394delinsAC	NP_001350520.1:p.Thr131=
NM_001363593.2:c.-465_-464delinsAC	NP_001350522.1:n.-465_-464delinsAC
NR_134580.2:n.824_825delinsAC