Canonical Allele Identifier: CA1977527974

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955769_61955792delinsTGCCGTGGCCCGACCGCCTCATGA , CM000673.2:g.61955769_61955792delinsTGCCGTGGCCCGACCGCCTCATGA	GRCh38
NC_000011.9:g.61723241_61723264delinsTGCCGTGGCCCGACCGCCTCATGA , CM000673.1:g.61723241_61723264delinsTGCCGTGGCCCGACCGCCTCATGA	GRCh37
NC_000011.8:g.61479817_61479840delinsTGCCGTGGCCCGACCGCCTCATGA	NCBI36
NG_009033.1:g.10886_10909delinsTGCCGTGGCCCGACCGCCTCATGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA MANE Select	ENSP00000367282.4:p.Leu100=
ENST00000378043.8:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	ENSP00000367282.4:p.Leu100=
ENST00000449131.6:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	ENSP00000399709.2:p.Leu40=
ENST00000524877.5:n.731_754delinsTGCCGTGGCCCGACCGCCTCATGA
ENST00000524926.5:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	ENSP00000432681.1:p.Leu100=
ENST00000526988.1:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
ENST00000529265.5:n.222_245delinsTGCCGTGGCCCGACCGCCTCATGA
ENST00000533521.5:n.923_946delinsTGCCGTGGCCCGACCGCCTCATGA
ENST00000534553.5:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
NM_001139443.1:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001132915.1:p.Leu40=
NM_001300786.1:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001287715.1:p.Leu40=
NM_001300787.1:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001287716.1:p.Leu40=
NM_004183.3:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	NP_004174.1:p.Leu100=
XM_005274210.2:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274267.1:p.Leu100=
XM_005274215.2:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
XM_005274216.2:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274273.1:p.Leu40=
XM_005274218.3:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
XM_005274219.2:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274276.1:p.Leu100=
XM_005274221.2:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274278.1:p.Leu100=
XM_011545229.1:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_011543531.1:p.Leu100=
XM_011545230.1:c.206_229delinsTGCCGTGGCCCGACCGCCTCATGA	XP_011543532.1:p.Leu69=
XM_011545231.1:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
XM_011545232.1:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_011543534.1:p.Leu100=
NM_001363591.1:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
NM_001363592.1:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001350521.1:p.Leu100=
NM_001363593.1:c.-877_-854delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001350522.1:n.-877_-854delinsTGCCGTGGC...
NR_134580.1:n.879_902delinsTGCCGTGGCCCGACCGCCTCATGA
XM_005274210.4:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274267.1:p.Leu100=
XM_005274215.4:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
XM_005274216.4:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274273.1:p.Leu40=
XM_005274219.4:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274276.1:p.Leu100=
XM_005274221.4:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_005274278.1:p.Leu100=
XM_011545229.3:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA	XP_011543531.1:p.Leu100=
XM_011545230.3:c.206_229delinsTGCCGTGGCCCGACCGCCTCATGA	XP_011543532.1:p.Leu69=
XM_017018230.2:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
XR_001747952.2:n.797_820delinsTGCCGTGGCCCGACCGCCTCATGA
XR_001747953.2:n.989_1012delinsTGCCGTGGCCCGACCGCCTCATGA
XR_001747954.2:n.989_1012delinsTGCCGTGGCCCGACCGCCTCATGA
XR_002957249.1:n.1946_1969delinsTCATGAGGCGGTCGGGCCACGGCA
NM_004183.4:c.299_322delinsTGCCGTGGCCCGACCGCCTCATGA MANE Select	NP_004174.1:p.Leu100=
NM_001139443.2:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001132915.1:p.Leu40=
NM_001300786.2:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001287715.1:p.Leu40=
NM_001300787.2:c.119_142delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001287716.1:p.Leu40=
NM_001363591.2:c.-20_4delinsTGCCGTGGCCCGACCGCCTCATGA
NM_001363593.2:c.-877_-854delinsTGCCGTGGCCCGACCGCCTCATGA	NP_001350522.1:n.-877_-854delinsTGCCGTGGC...
NR_134580.2:n.412_435delinsTGCCGTGGCCCGACCGCCTCATGA