Canonical Allele Identifier: CA1641009845

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343795_80343796delinsCA , CM000668.2:g.80343795_80343796delinsCA	GRCh38
NC_000006.11:g.81053512_81053513delinsCA , CM000668.1:g.81053512_81053513delinsCA	GRCh37
NC_000006.10:g.81110231_81110232delinsCA	NCBI36
NG_009775.1:g.242169_242170delinsCA
NG_009775.2:g.242169_242170delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1170_1171delinsCA MANE Select	ENSP00000318351.5:p.Ile390=
ENST00000320393.8:c.1170_1171delinsCA	ENSP00000318351.5:p.Ile390=
ENST00000356489.9:c.1170_1171delinsCA	ENSP00000348880.5:p.Ile390=
ENST00000491328.1:n.225_226delinsCA
NM_000056.3:c.1170_1171delinsCA	NP_000047.1:p.Ile390=
NM_183050.2:c.1170_1171delinsCA	NP_898871.1:p.Ile390=
XM_006715542.2:c.960_961delinsCA	XP_006715605.1:p.Ile320=
XM_011536024.1:c.*176_*177delinsCA	XP_011534326.1:n.*176_*177delinsCA
XM_011536026.1:c.960_961delinsCA	XP_011534328.1:p.Ile320=
NM_000056.4:c.1170_1171delinsCA	NP_000047.1:p.Ile390=
NM_001318975.1:c.960_961delinsCA	NP_001305904.1:p.Ile320=
NM_183050.3:c.1170_1171delinsCA	NP_898871.1:p.Ile390=
NR_134945.1:n.1348_1349delinsCA
XM_011536024.3:c.*176_*177delinsCA	XP_011534326.1:n.*176_*177delinsCA
XR_001743546.2:n.1068+70574_1068+70575delinsCA
XR_001743547.2:n.1068+70574_1068+70575delinsCA
XR_001743548.2:n.1068+70574_1068+70575delinsCA
XR_001743549.2:n.1068+70574_1068+70575delinsCA
XR_002956292.1:n.1068+70574_1068+70575delinsCA
NM_183050.4:c.1170_1171delinsCA MANE Select	NP_898871.1:p.Ile390=
NR_134945.2:n.1287_1288delinsCA
NM_000056.5:c.1170_1171delinsCA	NP_000047.1:p.Ile390=