Canonical Allele Identifier: CA1641009931

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343870_80343893delinsCAAGACACAGCAATCATCAGTGTT , CM000668.2:g.80343870_80343893delinsCAAGACACAGCAATCATCAGTGTT	GRCh38
NC_000006.11:g.81053587_81053610delinsCAAGACACAGCAATCATCAGTGTT , CM000668.1:g.81053587_81053610delinsCAAGACACAGCAATCATCAGTGTT	GRCh37
NC_000006.10:g.81110306_81110329delinsCAAGACACAGCAATCATCAGTGTT	NCBI36
NG_009775.1:g.242244_242267delinsCAAGACACAGCAATCATCAGTGTT
NG_009775.2:g.242244_242267delinsCAAGACACAGCAATCATCAGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*66_*89delinsCAAGACACAGCAATCATCAGTGTT MANE Select	ENSP00000318351.5:n.*66_*89delinsCAAGACACAGCAATCATCAGTGTT
ENST00000320393.8:c.*66_*89delinsCAAGACACAGCAATCATCAGTGTT	ENSP00000318351.5:n.*66_*89delinsCAAGACACAGCAATCATCAGTGTT
ENST00000356489.9:c.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT	ENSP00000348880.5:n.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT...
ENST00000491328.1:n.242+58_242+81delinsCAAGACACAGCAATCATCAGTGTT
NM_000056.3:c.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT	NP_000047.1:n.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT
NM_183050.2:c.*66_*89delinsCAAGACACAGCAATCATCAGTGTT	NP_898871.1:n.*66_*89delinsCAAGACACAGCAATCATCAGTGTT
NM_000056.4:c.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT	NP_000047.1:n.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT
NM_001318975.1:c.*66_*89delinsCAAGACACAGCAATCATCAGTGTT	NP_001305904.1:n.*66_*89delinsCAAGACACAGCAATCATCAGTGTT
NM_183050.3:c.*66_*89delinsCAAGACACAGCAATCATCAGTGTT	NP_898871.1:n.*66_*89delinsCAAGACACAGCAATCATCAGTGTT
NR_134945.1:n.1423_1446delinsCAAGACACAGCAATCATCAGTGTT
XM_011536024.3:c.*251_*274delinsCAAGACACAGCAATCATCAGTGTT	XP_011534326.1:n.*251_*274delinsCAAGACACAGCAATCATCAGTGTT
XR_001743546.2:n.1068+70649_1068+70672delinsCAAGACACAGCAATCATCAGTGTT
XR_001743547.2:n.1068+70649_1068+70672delinsCAAGACACAGCAATCATCAGTGTT
XR_001743548.2:n.1068+70649_1068+70672delinsCAAGACACAGCAATCATCAGTGTT
XR_001743549.2:n.1068+70649_1068+70672delinsCAAGACACAGCAATCATCAGTGTT
XR_002956292.1:n.1068+70649_1068+70672delinsCAAGACACAGCAATCATCAGTGTT
NM_183050.4:c.*66_*89delinsCAAGACACAGCAATCATCAGTGTT MANE Select	NP_898871.1:n.*66_*89delinsCAAGACACAGCAATCATCAGTGTT
NR_134945.2:n.1362_1385delinsCAAGACACAGCAATCATCAGTGTT
NM_000056.5:c.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT	NP_000047.1:n.*8+58_*8+81delinsCAAGACACAGCAATCATCAGTGTT