Canonical Allele Identifier: CA2502141655

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171167_80171168insTCTT , CM000668.2:g.80171167_80171168insTCTT	GRCh38
NC_000006.11:g.80880884_80880885insTCTT , CM000668.1:g.80880884_80880885insTCTT	GRCh37
NC_000006.10:g.80937603_80937604insTCTT	NCBI36
NG_009775.1:g.69541_69542insTCTT
NG_009775.2:g.69541_69542insTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.634-115_634-114insTCTT MANE Select	ENSP00000318351.5:n.634-115_634-114insTCTT
ENST00000320393.8:c.634-115_634-114insTCTT	ENSP00000318351.5:n.634-115_634-114insTCTT
ENST00000356489.9:c.634-115_634-114insTCTT	ENSP00000348880.5:n.634-115_634-114insTCTT
NM_000056.3:c.634-115_634-114insTCTT	NP_000047.1:n.634-115_634-114insTCTT
NM_183050.2:c.634-115_634-114insTCTT	NP_898871.1:n.634-115_634-114insTCTT
XM_005248756.3:c.634-115_634-114insTCTT	XP_005248813.1:n.634-115_634-114insTCTT
XM_006715542.2:c.424-115_424-114insTCTT	XP_006715605.1:n.424-115_424-114insTCTT
XM_011536023.1:c.634-115_634-114insTCTT	XP_011534325.1:n.634-115_634-114insTCTT
XM_011536024.1:c.634-115_634-114insTCTT	XP_011534326.1:n.634-115_634-114insTCTT
XM_011536025.1:c.634-115_634-114insTCTT	XP_011534327.1:n.634-115_634-114insTCTT
XM_011536026.1:c.424-115_424-114insTCTT	XP_011534328.1:n.424-115_424-114insTCTT
NM_000056.4:c.634-115_634-114insTCTT	NP_000047.1:n.634-115_634-114insTCTT
NM_001318975.1:c.424-115_424-114insTCTT	NP_001305904.1:n.424-115_424-114insTCTT
NM_183050.3:c.634-115_634-114insTCTT	NP_898871.1:n.634-115_634-114insTCTT
NR_134945.1:n.812-115_812-114insTCTT
XM_005248756.5:c.634-115_634-114insTCTT	XP_005248813.1:n.634-115_634-114insTCTT
XM_011536023.3:c.634-115_634-114insTCTT	XP_011534325.1:n.634-115_634-114insTCTT
XM_011536024.3:c.634-115_634-114insTCTT	XP_011534326.1:n.634-115_634-114insTCTT
XM_011536025.3:c.634-115_634-114insTCTT	XP_011534327.1:n.634-115_634-114insTCTT
XR_001743546.2:n.664-115_664-114insTCTT
XR_001743547.2:n.664-115_664-114insTCTT
XR_001743548.2:n.664-115_664-114insTCTT
XR_001743549.2:n.664-115_664-114insTCTT
XR_002956292.1:n.664-115_664-114insTCTT
NM_183050.4:c.634-115_634-114insTCTT MANE Select	NP_898871.1:n.634-115_634-114insTCTT
NR_134945.2:n.751-115_751-114insTCTT
NM_000056.5:c.634-115_634-114insTCTT	NP_000047.1:n.634-115_634-114insTCTT