Canonical Allele Identifier: CA568407221

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1182037944
• gnomAD v2: 6-81053544-TG-T
• gnomAD v3: 6-80343827-TG-T
• gnomAD v4: 6-80343827-TG-T
• MyVariant Identifiers: chr6:g.81053545del (hg19) ; chr6:g.80343828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343828del , CM000668.2:g.80343828del	GRCh38
NC_000006.11:g.81053545del , CM000668.1:g.81053545del	GRCh37
NC_000006.10:g.81110264del	NCBI36
NG_009775.1:g.242202del
NG_009775.2:g.242202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*24del MANE Select	ENSP00000318351.5:n.*24del
ENST00000320393.8:c.*24del	ENSP00000318351.5:n.*24del
ENST00000356489.9:c.*8+16del	ENSP00000348880.5:n.*8+16del
ENST00000491328.1:n.242+16del
NM_000056.3:c.*8+16del	NP_000047.1:n.*8+16del
NM_183050.2:c.*24del	NP_898871.1:n.*24del
NM_000056.4:c.*8+16del	NP_000047.1:n.*8+16del
NM_001318975.1:c.*24del	NP_001305904.1:n.*24del
NM_183050.3:c.*24del	NP_898871.1:n.*24del
NR_134945.1:n.1381del
XM_011536024.3:c.*209del	XP_011534326.1:n.*209del
XR_001743546.2:n.1068+70607del
XR_001743547.2:n.1068+70607del
XR_001743548.2:n.1068+70607del
XR_001743549.2:n.1068+70607del
XR_002956292.1:n.1068+70607del
NM_183050.4:c.*24del MANE Select	NP_898871.1:n.*24del
NR_134945.2:n.1320del
NM_000056.5:c.*8+16del	NP_000047.1:n.*8+16del