Canonical Allele Identifier: CA828547141

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1440881369
• MyVariant Identifiers: chr6:g.80878057_80878058del (hg19) ; chr6:g.80168340_80168341del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168343_80168344del , CM000668.2:g.80168343_80168344del	GRCh38
NC_000006.11:g.80878060_80878061del , CM000668.1:g.80878060_80878061del	GRCh37
NC_000006.10:g.80934779_80934780del	NCBI36
NG_009775.1:g.66717_66718del
NG_009775.2:g.66717_66718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-532_478-531del MANE Select	ENSP00000318351.5:n.478-532_478-531del
ENST00000320393.8:c.478-532_478-531del	ENSP00000318351.5:n.478-532_478-531del
ENST00000356489.9:c.478-532_478-531del	ENSP00000348880.5:n.478-532_478-531del
ENST00000369760.8:c.478-532_478-531del	ENSP00000358775.4:n.478-532_478-531del
NM_000056.3:c.478-532_478-531del	NP_000047.1:n.478-532_478-531del
NM_183050.2:c.478-532_478-531del	NP_898871.1:n.478-532_478-531del
XM_005248756.3:c.478-532_478-531del	XP_005248813.1:n.478-532_478-531del
XM_006715542.2:c.268-532_268-531del	XP_006715605.1:n.268-532_268-531del
XM_011536023.1:c.478-532_478-531del	XP_011534325.1:n.478-532_478-531del
XM_011536024.1:c.478-532_478-531del	XP_011534326.1:n.478-532_478-531del
XM_011536025.1:c.478-532_478-531del	XP_011534327.1:n.478-532_478-531del
XM_011536026.1:c.268-532_268-531del	XP_011534328.1:n.268-532_268-531del
XM_011536027.1:c.478-532_478-531del	XP_011534329.1:n.478-532_478-531del
NM_000056.4:c.478-532_478-531del	NP_000047.1:n.478-532_478-531del
NM_001318975.1:c.268-532_268-531del	NP_001305904.1:n.268-532_268-531del
NM_183050.3:c.478-532_478-531del	NP_898871.1:n.478-532_478-531del
NR_134945.1:n.562-532_562-531del
XM_005248756.5:c.478-532_478-531del	XP_005248813.1:n.478-532_478-531del
XM_011536023.3:c.478-532_478-531del	XP_011534325.1:n.478-532_478-531del
XM_011536024.3:c.478-532_478-531del	XP_011534326.1:n.478-532_478-531del
XM_011536025.3:c.478-532_478-531del	XP_011534327.1:n.478-532_478-531del
XR_001743546.2:n.508-532_508-531del
XR_001743547.2:n.508-532_508-531del
XR_001743548.2:n.508-532_508-531del
XR_001743549.2:n.508-532_508-531del
XR_002956292.1:n.508-532_508-531del
NM_183050.4:c.478-532_478-531del MANE Select	NP_898871.1:n.478-532_478-531del
NR_134945.2:n.501-532_501-531del
NM_000056.5:c.478-532_478-531del	NP_000047.1:n.478-532_478-531del