Canonical Allele Identifier: CA2792335593

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958353_61958356del , CM000673.2:g.61958353_61958356del	GRCh38
NC_000011.9:g.61725825_61725828del , CM000673.1:g.61725825_61725828del	GRCh37
NC_000011.8:g.61482401_61482404del	NCBI36
NG_009033.1:g.13470_13473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.867+55_867+58del MANE Select	ENSP00000367282.4:n.867+55_867+58del
ENST00000378043.8:c.867+55_867+58del	ENSP00000367282.4:n.867+55_867+58del
ENST00000449131.6:c.687+55_687+58del	ENSP00000399709.2:n.687+55_687+58del
ENST00000524877.5:n.1354_1357del
ENST00000524926.5:c.922_925del	ENSP00000432681.1:p.Gln308SerfsTer17
ENST00000526988.1:c.604_607del	ENSP00000433195.1:p.Gln202SerfsTer17
ENST00000529265.5:n.845_848del
ENST00000534553.5:c.163+2402_163+2405del	ENSP00000431189.1:n.163+2402_163+2405del
NM_001139443.1:c.687+55_687+58del	NP_001132915.1:n.687+55_687+58del
NM_001300786.1:c.687+55_687+58del	NP_001287715.1:n.687+55_687+58del
NM_001300787.1:c.687+55_687+58del	NP_001287716.1:n.687+55_687+58del
NM_004183.3:c.867+55_867+58del	NP_004174.1:n.867+55_867+58del
XM_005274210.2:c.867+55_867+58del	XP_005274267.1:n.867+55_867+58del
XM_005274215.2:c.549+55_549+58del	XP_005274272.1:n.549+55_549+58del
XM_005274216.2:c.742_745del	XP_005274273.1:p.Gln248SerfsTer17
XM_005274218.3:c.604_607del	XP_005274275.1:p.Gln202SerfsTer17
XM_005274219.2:c.867+55_867+58del	XP_005274276.1:n.867+55_867+58del
XM_005274221.2:c.714+889_714+892del	XP_005274278.1:n.714+889_714+892del
XM_011545229.1:c.867+55_867+58del	XP_011543531.1:n.867+55_867+58del
XM_011545230.1:c.774+55_774+58del	XP_011543532.1:n.774+55_774+58del
XM_011545231.1:c.549+55_549+58del	XP_011543533.1:n.549+55_549+58del
XM_011545232.1:c.922_925del	XP_011543534.1:p.Gln308SerfsTer17
NM_001363591.1:c.549+55_549+58del	NP_001350520.1:n.549+55_549+58del
NM_001363592.1:c.922_925del	NP_001350521.1:p.Gln308SerfsTer17
NM_001363593.1:c.-254_-251del	NP_001350522.1:n.-254_-251del
NR_134580.1:n.1502_1505del
XM_005274210.4:c.867+55_867+58del	XP_005274267.1:n.867+55_867+58del
XM_005274215.4:c.549+55_549+58del	XP_005274272.1:n.549+55_549+58del
XM_005274216.4:c.742_745del	XP_005274273.1:p.Gln248SerfsTer17
XM_005274219.4:c.867+55_867+58del	XP_005274276.1:n.867+55_867+58del
XM_005274221.4:c.714+889_714+892del	XP_005274278.1:n.714+889_714+892del
XM_011545229.3:c.867+55_867+58del	XP_011543531.1:n.867+55_867+58del
XM_011545230.3:c.774+55_774+58del	XP_011543532.1:n.774+55_774+58del
XM_017018230.2:c.604_607del	XP_016873719.1:p.Gln202SerfsTer17
XR_001747952.2:n.1420_1423del
XR_001747953.2:n.1557+55_1557+58del
XR_001747954.2:n.1404+889_1404+892del
XR_001748245.1:n.375_378del
XR_002957249.1:n.375_378del
NM_004183.4:c.867+55_867+58del MANE Select	NP_004174.1:n.867+55_867+58del
NM_001139443.2:c.687+55_687+58del	NP_001132915.1:n.687+55_687+58del
NM_001300786.2:c.687+55_687+58del	NP_001287715.1:n.687+55_687+58del
NM_001300787.2:c.687+55_687+58del	NP_001287716.1:n.687+55_687+58del
NM_001363591.2:c.549+55_549+58del	NP_001350520.1:n.549+55_549+58del
NM_001363593.2:c.-254_-251del	NP_001350522.1:n.-254_-251del
NR_134580.2:n.1035_1038del