Canonical Allele Identifier: CA1640908862

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80107073_80107075delinsCTG , CM000668.2:g.80107073_80107075delinsCTG	GRCh38
NC_000006.11:g.80816790_80816792delinsCTG , CM000668.1:g.80816790_80816792delinsCTG	GRCh37
NC_000006.10:g.80873509_80873511delinsCTG	NCBI36
NG_009775.1:g.5447_5449delinsCTG
NG_009775.2:g.5447_5449delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.196+184_196+186delinsCTG MANE Select	ENSP00000318351.5:n.196+184_196+186delinsCTG
ENST00000320393.8:c.196+184_196+186delinsCTG	ENSP00000318351.5:n.196+184_196+186delinsCTG
ENST00000356489.9:c.196+184_196+186delinsCTG	ENSP00000348880.5:n.196+184_196+186delinsCTG
ENST00000369760.8:c.196+184_196+186delinsCTG	ENSP00000358775.4:n.196+184_196+186delinsCTG
NM_000056.3:c.196+184_196+186delinsCTG	NP_000047.1:n.196+184_196+186delinsCTG
NM_183050.2:c.196+184_196+186delinsCTG	NP_898871.1:n.196+184_196+186delinsCTG
XM_005248756.3:c.196+184_196+186delinsCTG	XP_005248813.1:n.196+184_196+186delinsCTG
XM_006715542.2:c.-15+390_-15+392delinsCTG	XP_006715605.1:n.-15+390_-15+392delinsCTG
XM_011536023.1:c.196+184_196+186delinsCTG	XP_011534325.1:n.196+184_196+186delinsCTG
XM_011536024.1:c.196+184_196+186delinsCTG	XP_011534326.1:n.196+184_196+186delinsCTG
XM_011536025.1:c.196+184_196+186delinsCTG	XP_011534327.1:n.196+184_196+186delinsCTG
XM_011536027.1:c.196+184_196+186delinsCTG	XP_011534329.1:n.196+184_196+186delinsCTG
NM_000056.4:c.196+184_196+186delinsCTG	NP_000047.1:n.196+184_196+186delinsCTG
NM_001318975.1:c.-15+390_-15+392delinsCTG	NP_001305904.1:n.-15+390_-15+392delinsCTG
NM_183050.3:c.196+184_196+186delinsCTG	NP_898871.1:n.196+184_196+186delinsCTG
NR_134945.1:n.280+184_280+186delinsCTG
XM_005248756.5:c.196+184_196+186delinsCTG	XP_005248813.1:n.196+184_196+186delinsCTG
XM_011536023.3:c.196+184_196+186delinsCTG	XP_011534325.1:n.196+184_196+186delinsCTG
XM_011536024.3:c.196+184_196+186delinsCTG	XP_011534326.1:n.196+184_196+186delinsCTG
XM_011536025.3:c.196+184_196+186delinsCTG	XP_011534327.1:n.196+184_196+186delinsCTG
XR_001743546.2:n.226+184_226+186delinsCTG
XR_001743547.2:n.226+184_226+186delinsCTG
XR_001743548.2:n.226+184_226+186delinsCTG
XR_001743549.2:n.226+184_226+186delinsCTG
XR_002956292.1:n.226+184_226+186delinsCTG
NM_183050.4:c.196+184_196+186delinsCTG MANE Select	NP_898871.1:n.196+184_196+186delinsCTG
NR_134945.2:n.219+184_219+186delinsCTG
NM_000056.5:c.196+184_196+186delinsCTG	NP_000047.1:n.196+184_196+186delinsCTG