Canonical Allele Identifier: CA1640937343

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168318_80168325delinsAGAGAGGG , CM000668.2:g.80168318_80168325delinsAGAGAGGG	GRCh38
NC_000006.11:g.80878035_80878042delinsAGAGAGGG , CM000668.1:g.80878035_80878042delinsAGAGAGGG	GRCh37
NC_000006.10:g.80934754_80934761delinsAGAGAGGG	NCBI36
NG_009775.1:g.66692_66699delinsAGAGAGGG
NG_009775.2:g.66692_66699delinsAGAGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.477+507_477+514delinsAGAGAGGG MANE Select	ENSP00000318351.5:n.477+507_477+514delinsAGAGAGGG
ENST00000320393.8:c.477+507_477+514delinsAGAGAGGG	ENSP00000318351.5:n.477+507_477+514delinsAGAGAGGG
ENST00000356489.9:c.477+507_477+514delinsAGAGAGGG	ENSP00000348880.5:n.477+507_477+514delinsAGAGAGGG
ENST00000369760.8:c.477+507_477+514delinsAGAGAGGG	ENSP00000358775.4:n.477+507_477+514delinsAGAGAGGG
NM_000056.3:c.477+507_477+514delinsAGAGAGGG	NP_000047.1:n.477+507_477+514delinsAGAGAGGG
NM_183050.2:c.477+507_477+514delinsAGAGAGGG	NP_898871.1:n.477+507_477+514delinsAGAGAGGG
XM_005248756.3:c.477+507_477+514delinsAGAGAGGG	XP_005248813.1:n.477+507_477+514delinsAGAGAGGG
XM_006715542.2:c.267+507_267+514delinsAGAGAGGG	XP_006715605.1:n.267+507_267+514delinsAGAGAGGG
XM_011536023.1:c.477+507_477+514delinsAGAGAGGG	XP_011534325.1:n.477+507_477+514delinsAGAGAGGG
XM_011536024.1:c.477+507_477+514delinsAGAGAGGG	XP_011534326.1:n.477+507_477+514delinsAGAGAGGG
XM_011536025.1:c.477+507_477+514delinsAGAGAGGG	XP_011534327.1:n.477+507_477+514delinsAGAGAGGG
XM_011536026.1:c.267+507_267+514delinsAGAGAGGG	XP_011534328.1:n.267+507_267+514delinsAGAGAGGG
XM_011536027.1:c.477+507_477+514delinsAGAGAGGG	XP_011534329.1:n.477+507_477+514delinsAGAGAGGG
NM_000056.4:c.477+507_477+514delinsAGAGAGGG	NP_000047.1:n.477+507_477+514delinsAGAGAGGG
NM_001318975.1:c.267+507_267+514delinsAGAGAGGG	NP_001305904.1:n.267+507_267+514delinsAGAGAGGG
NM_183050.3:c.477+507_477+514delinsAGAGAGGG	NP_898871.1:n.477+507_477+514delinsAGAGAGGG
NR_134945.1:n.561+507_561+514delinsAGAGAGGG
XM_005248756.5:c.477+507_477+514delinsAGAGAGGG	XP_005248813.1:n.477+507_477+514delinsAGAGAGGG
XM_011536023.3:c.477+507_477+514delinsAGAGAGGG	XP_011534325.1:n.477+507_477+514delinsAGAGAGGG
XM_011536024.3:c.477+507_477+514delinsAGAGAGGG	XP_011534326.1:n.477+507_477+514delinsAGAGAGGG
XM_011536025.3:c.477+507_477+514delinsAGAGAGGG	XP_011534327.1:n.477+507_477+514delinsAGAGAGGG
XR_001743546.2:n.507+507_507+514delinsAGAGAGGG
XR_001743547.2:n.507+507_507+514delinsAGAGAGGG
XR_001743548.2:n.507+507_507+514delinsAGAGAGGG
XR_001743549.2:n.507+507_507+514delinsAGAGAGGG
XR_002956292.1:n.507+507_507+514delinsAGAGAGGG
NM_183050.4:c.477+507_477+514delinsAGAGAGGG MANE Select	NP_898871.1:n.477+507_477+514delinsAGAGAGGG
NR_134945.2:n.500+507_500+514delinsAGAGAGGG
NM_000056.5:c.477+507_477+514delinsAGAGAGGG	NP_000047.1:n.477+507_477+514delinsAGAGAGGG