Canonical Allele Identifier: CA568407223

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1177944370
• gnomAD v2: 6-81053561-GC-G
• gnomAD v4: 6-80343844-GC-G
• MyVariant Identifiers: chr6:g.81053562del (hg19) ; chr6:g.80343845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343848del , CM000668.2:g.80343848del	GRCh38
NC_000006.11:g.81053565del , CM000668.1:g.81053565del	GRCh37
NC_000006.10:g.81110284del	NCBI36
NG_009775.1:g.242222del
NG_009775.2:g.242222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*44del MANE Select	ENSP00000318351.5:n.*44del
ENST00000320393.8:c.*44del	ENSP00000318351.5:n.*44del
ENST00000356489.9:c.*8+36del	ENSP00000348880.5:n.*8+36del
ENST00000491328.1:n.242+36del
NM_000056.3:c.*8+36del	NP_000047.1:n.*8+36del
NM_183050.2:c.*44del	NP_898871.1:n.*44del
NM_000056.4:c.*8+36del	NP_000047.1:n.*8+36del
NM_001318975.1:c.*44del	NP_001305904.1:n.*44del
NM_183050.3:c.*44del	NP_898871.1:n.*44del
NR_134945.1:n.1401del
XM_011536024.3:c.*229del	XP_011534326.1:n.*229del
XR_001743546.2:n.1068+70627del
XR_001743547.2:n.1068+70627del
XR_001743548.2:n.1068+70627del
XR_001743549.2:n.1068+70627del
XR_002956292.1:n.1068+70627del
NM_183050.4:c.*44del MANE Select	NP_898871.1:n.*44del
NR_134945.2:n.1340del
NM_000056.5:c.*8+36del	NP_000047.1:n.*8+36del