Canonical Allele Identifier: CA2695214336

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959534_61959542del , CM000673.2:g.61959534_61959542del	GRCh38
NC_000011.9:g.61727006_61727014del , CM000673.1:g.61727006_61727014del	GRCh37
NC_000011.8:g.61483582_61483590del	NCBI36
NG_009033.1:g.14651_14659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.904_912del MANE Select	ENSP00000367282.4:p.Asp302_Asp304del
ENST00000378043.8:c.904_912del	ENSP00000367282.4:p.Asp302_Asp304del
ENST00000449131.6:c.724_732del	ENSP00000399709.2:p.Asp242_Asp244del
ENST00000524877.5:n.2535_2543del
ENST00000524926.5:c.1107_1115del	ENSP00000432681.1:p.Met369_Met371del
ENST00000526988.1:c.789_797del	ENSP00000433195.1:p.Met263_Met265del
ENST00000534553.5:c.164-2721_164-2713del	ENSP00000431189.1:n.164-2721_164-2713del
NM_001139443.1:c.724_732del	NP_001132915.1:p.Asp242_Asp244del
NM_001300786.1:c.688-358_688-350del	NP_001287715.1:n.688-358_688-350del
NM_001300787.1:c.724_732del	NP_001287716.1:p.Asp242_Asp244del
NM_004183.3:c.904_912del	NP_004174.1:p.Asp302_Asp304del
XM_005274210.2:c.904_912del	XP_005274267.1:p.Asp302_Asp304del
XM_005274215.2:c.586_594del	XP_005274272.1:p.Asp196_Asp198del
XM_005274216.2:c.927_935del	XP_005274273.1:p.Met309_Met311del
XM_005274218.3:c.789_797del	XP_005274275.1:p.Met263_Met265del
XM_005274219.2:c.867+1236_867+1244del	XP_005274276.1:n.867+1236_867+1244del
XM_005274221.2:c.714+2070_714+2078del	XP_005274278.1:n.714+2070_714+2078del
XM_011545229.1:c.904_912del	XP_011543531.1:p.Asp302_Asp304del
XM_011545230.1:c.811_819del	XP_011543532.1:p.Asp271_Asp273del
XM_011545231.1:c.586_594del	XP_011543533.1:p.Asp196_Asp198del
XM_011545232.1:c.1107_1115del	XP_011543534.1:p.Met369_Met371del
XM_011545233.1:c.61_69del	XP_011543535.1:p.Asp21_Asp23del
NM_001363591.1:c.586_594del	NP_001350520.1:p.Asp196_Asp198del
NM_001363592.1:c.1107_1115del	NP_001350521.1:p.Met369_Met371del
NM_001363593.1:c.-69_-61del	NP_001350522.1:n.-69_-61del
NR_134580.1:n.1687_1695del
XM_005274210.4:c.904_912del	XP_005274267.1:p.Asp302_Asp304del
XM_005274215.4:c.586_594del	XP_005274272.1:p.Asp196_Asp198del
XM_005274216.4:c.927_935del	XP_005274273.1:p.Met309_Met311del
XM_005274219.4:c.867+1236_867+1244del	XP_005274276.1:n.867+1236_867+1244del
XM_005274221.4:c.714+2070_714+2078del	XP_005274278.1:n.714+2070_714+2078del
XM_011545229.3:c.904_912del	XP_011543531.1:p.Asp302_Asp304del
XM_011545230.3:c.811_819del	XP_011543532.1:p.Asp271_Asp273del
XM_011545233.3:c.61_69del	XP_011543535.1:p.Asp21_Asp23del
XM_017018230.2:c.789_797del	XP_016873719.1:p.Met263_Met265del
XR_001747952.2:n.1605_1613del
XR_001747953.2:n.1557+1236_1557+1244del
XR_001747954.2:n.1404+2070_1404+2078del
XR_001748245.1:n.196+193_196+201del
XR_002957249.1:n.196+193_196+201del
NM_004183.4:c.904_912del MANE Select	NP_004174.1:p.Asp302_Asp304del
NM_001139443.2:c.724_732del	NP_001132915.1:p.Asp242_Asp244del
NM_001300786.2:c.688-358_688-350del	NP_001287715.1:n.688-358_688-350del
NM_001300787.2:c.724_732del	NP_001287716.1:p.Asp242_Asp244del
NM_001363591.2:c.586_594del	NP_001350520.1:p.Asp196_Asp198del
NM_001363593.2:c.-69_-61del	NP_001350522.1:n.-69_-61del
NR_134580.2:n.1220_1228del