Canonical Allele Identifier: CA2679496962

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106687-AGCGGGGATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106692_80106700del , CM000668.2:g.80106692_80106700del	GRCh38
NC_000006.11:g.80816409_80816417del , CM000668.1:g.80816409_80816417del	GRCh37
NC_000006.10:g.80873128_80873136del	NCBI36
NG_009775.1:g.5066_5074del
NG_009775.2:g.5066_5074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.-2_7del
ENST00000320393.8:c.-2_7del
ENST00000356489.9:c.-2_7del
ENST00000369760.8:c.-2_7del
NM_000056.3:c.-2_7del
NM_183050.2:c.-2_7del
XM_005248756.3:c.-2_7del
XM_006715542.2:c.-15+9_-15+17del	XP_006715605.1:n.-15+9_-15+17del
XM_011536023.1:c.-2_7del
XM_011536024.1:c.-2_7del
XM_011536025.1:c.-2_7del
XM_011536027.1:c.-2_7del
NM_000056.4:c.-2_7del
NM_001318975.1:c.-15+9_-15+17del	NP_001305904.1:n.-15+9_-15+17del
NM_183050.3:c.-2_7del
NR_134945.1:n.83_91del
XM_005248756.5:c.-2_7del
XM_011536023.3:c.-2_7del
XM_011536024.3:c.-2_7del
XM_011536025.3:c.-2_7del
XR_001743546.2:n.29_37del
XR_001743547.2:n.29_37del
XR_001743548.2:n.29_37del
XR_001743549.2:n.29_37del
XR_002956292.1:n.29_37del
NM_183050.4:c.-2_7del
NR_134945.2:n.22_30del
NM_000056.5:c.-2_7del