Canonical Allele Identifier: CA2792335611

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958378_61958382del , CM000673.2:g.61958378_61958382del	GRCh38
NC_000011.9:g.61725850_61725854del , CM000673.1:g.61725850_61725854del	GRCh37
NC_000011.8:g.61482426_61482430del	NCBI36
NG_009033.1:g.13495_13499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+80_867+84del MANE Select	ENSP00000367282.4:n.867+80_867+84del
ENST00000378043.8:c.867+80_867+84del	ENSP00000367282.4:n.867+80_867+84del
ENST00000449131.6:c.687+80_687+84del	ENSP00000399709.2:n.687+80_687+84del
ENST00000524877.5:n.1379_1383del
ENST00000524926.5:c.947_951del	ENSP00000432681.1:p.Gln316ProfsTer27
ENST00000526988.1:c.629_633del	ENSP00000433195.1:p.Gln210ProfsTer27
ENST00000529265.5:n.870_874del
ENST00000534553.5:c.163+2427_163+2431del	ENSP00000431189.1:n.163+2427_163+2431del
NM_001139443.1:c.687+80_687+84del	NP_001132915.1:n.687+80_687+84del
NM_001300786.1:c.687+80_687+84del	NP_001287715.1:n.687+80_687+84del
NM_001300787.1:c.687+80_687+84del	NP_001287716.1:n.687+80_687+84del
NM_004183.3:c.867+80_867+84del	NP_004174.1:n.867+80_867+84del
XM_005274210.2:c.867+80_867+84del	XP_005274267.1:n.867+80_867+84del
XM_005274215.2:c.549+80_549+84del	XP_005274272.1:n.549+80_549+84del
XM_005274216.2:c.767_771del	XP_005274273.1:p.Gln256ProfsTer27
XM_005274218.3:c.629_633del	XP_005274275.1:p.Gln210ProfsTer27
XM_005274219.2:c.867+80_867+84del	XP_005274276.1:n.867+80_867+84del
XM_005274221.2:c.714+914_714+918del	XP_005274278.1:n.714+914_714+918del
XM_011545229.1:c.867+80_867+84del	XP_011543531.1:n.867+80_867+84del
XM_011545230.1:c.774+80_774+84del	XP_011543532.1:n.774+80_774+84del
XM_011545231.1:c.549+80_549+84del	XP_011543533.1:n.549+80_549+84del
XM_011545232.1:c.947_951del	XP_011543534.1:p.Gln316ProfsTer27
NM_001363591.1:c.549+80_549+84del	NP_001350520.1:n.549+80_549+84del
NM_001363592.1:c.947_951del	NP_001350521.1:p.Gln316ProfsTer27
NM_001363593.1:c.-229_-225del	NP_001350522.1:n.-229_-225del
NR_134580.1:n.1527_1531del
XM_005274210.4:c.867+80_867+84del	XP_005274267.1:n.867+80_867+84del
XM_005274215.4:c.549+80_549+84del	XP_005274272.1:n.549+80_549+84del
XM_005274216.4:c.767_771del	XP_005274273.1:p.Gln256ProfsTer27
XM_005274219.4:c.867+80_867+84del	XP_005274276.1:n.867+80_867+84del
XM_005274221.4:c.714+914_714+918del	XP_005274278.1:n.714+914_714+918del
XM_011545229.3:c.867+80_867+84del	XP_011543531.1:n.867+80_867+84del
XM_011545230.3:c.774+80_774+84del	XP_011543532.1:n.774+80_774+84del
XM_017018230.2:c.629_633del	XP_016873719.1:p.Gln210ProfsTer27
XR_001747952.2:n.1445_1449del
XR_001747953.2:n.1557+80_1557+84del
XR_001747954.2:n.1404+914_1404+918del
XR_001748245.1:n.347_351del
XR_002957249.1:n.347_351del
NM_004183.4:c.867+80_867+84del MANE Select	NP_004174.1:n.867+80_867+84del
NM_001139443.2:c.687+80_687+84del	NP_001132915.1:n.687+80_687+84del
NM_001300786.2:c.687+80_687+84del	NP_001287715.1:n.687+80_687+84del
NM_001300787.2:c.687+80_687+84del	NP_001287716.1:n.687+80_687+84del
NM_001363591.2:c.549+80_549+84del	NP_001350520.1:n.549+80_549+84del
NM_001363593.2:c.-229_-225del	NP_001350522.1:n.-229_-225del
NR_134580.2:n.1060_1064del