Canonical Allele Identifier: CA2695206774

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80167723_80167725del , CM000668.2:g.80167723_80167725del	GRCh38
NC_000006.11:g.80877440_80877442del , CM000668.1:g.80877440_80877442del	GRCh37
NC_000006.10:g.80934159_80934161del	NCBI36
NG_009775.1:g.66097_66099del
NG_009775.2:g.66097_66099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.389_391del MANE Select	ENSP00000318351.5:p.Val130del
ENST00000320393.8:c.389_391del	ENSP00000318351.5:p.Val130del
ENST00000356489.9:c.389_391del	ENSP00000348880.5:p.Val130del
ENST00000369760.8:c.389_391del	ENSP00000358775.4:p.Val130del
NM_000056.3:c.389_391del	NP_000047.1:p.Val130del
NM_183050.2:c.389_391del	NP_898871.1:p.Val130del
XM_005248756.3:c.389_391del	XP_005248813.1:p.Val130del
XM_006715542.2:c.179_181del	XP_006715605.1:p.Val60del
XM_011536023.1:c.389_391del	XP_011534325.1:p.Val130del
XM_011536024.1:c.389_391del	XP_011534326.1:p.Val130del
XM_011536025.1:c.389_391del	XP_011534327.1:p.Val130del
XM_011536026.1:c.179_181del	XP_011534328.1:p.Val60del
XM_011536027.1:c.389_391del	XP_011534329.1:p.Val130del
NM_000056.4:c.389_391del	NP_000047.1:p.Val130del
NM_001318975.1:c.179_181del	NP_001305904.1:p.Val60del
NM_183050.3:c.389_391del	NP_898871.1:p.Val130del
NR_134945.1:n.473_475del
XM_005248756.5:c.389_391del	XP_005248813.1:p.Val130del
XM_011536023.3:c.389_391del	XP_011534325.1:p.Val130del
XM_011536024.3:c.389_391del	XP_011534326.1:p.Val130del
XM_011536025.3:c.389_391del	XP_011534327.1:p.Val130del
XR_001743546.2:n.419_421del
XR_001743547.2:n.419_421del
XR_001743548.2:n.419_421del
XR_001743549.2:n.419_421del
XR_002956292.1:n.419_421del
NM_183050.4:c.389_391del MANE Select	NP_898871.1:p.Val130del
NR_134945.2:n.412_414del
NM_000056.5:c.389_391del	NP_000047.1:p.Val130del