Canonical Allele Identifier: CA2679498310

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80171153-TTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171158_80171162del , CM000668.2:g.80171158_80171162del	GRCh38
NC_000006.11:g.80880875_80880879del , CM000668.1:g.80880875_80880879del	GRCh37
NC_000006.10:g.80937594_80937598del	NCBI36
NG_009775.1:g.69532_69536del
NG_009775.2:g.69532_69536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.634-124_634-120del MANE Select	ENSP00000318351.5:n.634-124_634-120del
ENST00000320393.8:c.634-124_634-120del	ENSP00000318351.5:n.634-124_634-120del
ENST00000356489.9:c.634-124_634-120del	ENSP00000348880.5:n.634-124_634-120del
NM_000056.3:c.634-124_634-120del	NP_000047.1:n.634-124_634-120del
NM_183050.2:c.634-124_634-120del	NP_898871.1:n.634-124_634-120del
XM_005248756.3:c.634-124_634-120del	XP_005248813.1:n.634-124_634-120del
XM_006715542.2:c.424-124_424-120del	XP_006715605.1:n.424-124_424-120del
XM_011536023.1:c.634-124_634-120del	XP_011534325.1:n.634-124_634-120del
XM_011536024.1:c.634-124_634-120del	XP_011534326.1:n.634-124_634-120del
XM_011536025.1:c.634-124_634-120del	XP_011534327.1:n.634-124_634-120del
XM_011536026.1:c.424-124_424-120del	XP_011534328.1:n.424-124_424-120del
NM_000056.4:c.634-124_634-120del	NP_000047.1:n.634-124_634-120del
NM_001318975.1:c.424-124_424-120del	NP_001305904.1:n.424-124_424-120del
NM_183050.3:c.634-124_634-120del	NP_898871.1:n.634-124_634-120del
NR_134945.1:n.812-124_812-120del
XM_005248756.5:c.634-124_634-120del	XP_005248813.1:n.634-124_634-120del
XM_011536023.3:c.634-124_634-120del	XP_011534325.1:n.634-124_634-120del
XM_011536024.3:c.634-124_634-120del	XP_011534326.1:n.634-124_634-120del
XM_011536025.3:c.634-124_634-120del	XP_011534327.1:n.634-124_634-120del
XR_001743546.2:n.664-124_664-120del
XR_001743547.2:n.664-124_664-120del
XR_001743548.2:n.664-124_664-120del
XR_001743549.2:n.664-124_664-120del
XR_002956292.1:n.664-124_664-120del
NM_183050.4:c.634-124_634-120del MANE Select	NP_898871.1:n.634-124_634-120del
NR_134945.2:n.751-124_751-120del
NM_000056.5:c.634-124_634-120del	NP_000047.1:n.634-124_634-120del