Canonical Allele Identifier: CA2543361156

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171168_80171169insTTCAACAG , CM000668.2:g.80171168_80171169insTTCAACAG	GRCh38
NC_000006.11:g.80880885_80880886insTTCAACAG , CM000668.1:g.80880885_80880886insTTCAACAG	GRCh37
NC_000006.10:g.80937604_80937605insTTCAACAG	NCBI36
NG_009775.1:g.69542_69543insTTCAACAG
NG_009775.2:g.69542_69543insTTCAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.634-114_634-113insTTCAACAG MANE Select	ENSP00000318351.5:n.634-114_634-113insTTCAACAG
ENST00000320393.8:c.634-114_634-113insTTCAACAG	ENSP00000318351.5:n.634-114_634-113insTTCAACAG
ENST00000356489.9:c.634-114_634-113insTTCAACAG	ENSP00000348880.5:n.634-114_634-113insTTCAACAG
NM_000056.3:c.634-114_634-113insTTCAACAG	NP_000047.1:n.634-114_634-113insTTCAACAG
NM_183050.2:c.634-114_634-113insTTCAACAG	NP_898871.1:n.634-114_634-113insTTCAACAG
XM_005248756.3:c.634-114_634-113insTTCAACAG	XP_005248813.1:n.634-114_634-113insTTCAACAG
XM_006715542.2:c.424-114_424-113insTTCAACAG	XP_006715605.1:n.424-114_424-113insTTCAACAG
XM_011536023.1:c.634-114_634-113insTTCAACAG	XP_011534325.1:n.634-114_634-113insTTCAACAG
XM_011536024.1:c.634-114_634-113insTTCAACAG	XP_011534326.1:n.634-114_634-113insTTCAACAG
XM_011536025.1:c.634-114_634-113insTTCAACAG	XP_011534327.1:n.634-114_634-113insTTCAACAG
XM_011536026.1:c.424-114_424-113insTTCAACAG	XP_011534328.1:n.424-114_424-113insTTCAACAG
NM_000056.4:c.634-114_634-113insTTCAACAG	NP_000047.1:n.634-114_634-113insTTCAACAG
NM_001318975.1:c.424-114_424-113insTTCAACAG	NP_001305904.1:n.424-114_424-113insTTCAACAG
NM_183050.3:c.634-114_634-113insTTCAACAG	NP_898871.1:n.634-114_634-113insTTCAACAG
NR_134945.1:n.812-114_812-113insTTCAACAG
XM_005248756.5:c.634-114_634-113insTTCAACAG	XP_005248813.1:n.634-114_634-113insTTCAACAG
XM_011536023.3:c.634-114_634-113insTTCAACAG	XP_011534325.1:n.634-114_634-113insTTCAACAG
XM_011536024.3:c.634-114_634-113insTTCAACAG	XP_011534326.1:n.634-114_634-113insTTCAACAG
XM_011536025.3:c.634-114_634-113insTTCAACAG	XP_011534327.1:n.634-114_634-113insTTCAACAG
XR_001743546.2:n.664-114_664-113insTTCAACAG
XR_001743547.2:n.664-114_664-113insTTCAACAG
XR_001743548.2:n.664-114_664-113insTTCAACAG
XR_001743549.2:n.664-114_664-113insTTCAACAG
XR_002956292.1:n.664-114_664-113insTTCAACAG
NM_183050.4:c.634-114_634-113insTTCAACAG MANE Select	NP_898871.1:n.634-114_634-113insTTCAACAG
NR_134945.2:n.751-114_751-113insTTCAACAG
NM_000056.5:c.634-114_634-113insTTCAACAG	NP_000047.1:n.634-114_634-113insTTCAACAG