Canonical Allele Identifier: CA1640937365

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168348_80168353delinsAGAGAG , CM000668.2:g.80168348_80168353delinsAGAGAG	GRCh38
NC_000006.11:g.80878065_80878070delinsAGAGAG , CM000668.1:g.80878065_80878070delinsAGAGAG	GRCh37
NC_000006.10:g.80934784_80934789delinsAGAGAG	NCBI36
NG_009775.1:g.66722_66727delinsAGAGAG
NG_009775.2:g.66722_66727delinsAGAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-527_478-522delinsAGAGAG MANE Select	ENSP00000318351.5:n.478-527_478-522delinsAGAGAG
ENST00000320393.8:c.478-527_478-522delinsAGAGAG	ENSP00000318351.5:n.478-527_478-522delinsAGAGAG
ENST00000356489.9:c.478-527_478-522delinsAGAGAG	ENSP00000348880.5:n.478-527_478-522delinsAGAGAG
ENST00000369760.8:c.478-527_478-522delinsAGAGAG	ENSP00000358775.4:n.478-527_478-522delinsAGAGAG
NM_000056.3:c.478-527_478-522delinsAGAGAG	NP_000047.1:n.478-527_478-522delinsAGAGAG
NM_183050.2:c.478-527_478-522delinsAGAGAG	NP_898871.1:n.478-527_478-522delinsAGAGAG
XM_005248756.3:c.478-527_478-522delinsAGAGAG	XP_005248813.1:n.478-527_478-522delinsAGAGAG
XM_006715542.2:c.268-527_268-522delinsAGAGAG	XP_006715605.1:n.268-527_268-522delinsAGAGAG
XM_011536023.1:c.478-527_478-522delinsAGAGAG	XP_011534325.1:n.478-527_478-522delinsAGAGAG
XM_011536024.1:c.478-527_478-522delinsAGAGAG	XP_011534326.1:n.478-527_478-522delinsAGAGAG
XM_011536025.1:c.478-527_478-522delinsAGAGAG	XP_011534327.1:n.478-527_478-522delinsAGAGAG
XM_011536026.1:c.268-527_268-522delinsAGAGAG	XP_011534328.1:n.268-527_268-522delinsAGAGAG
XM_011536027.1:c.478-527_478-522delinsAGAGAG	XP_011534329.1:n.478-527_478-522delinsAGAGAG
NM_000056.4:c.478-527_478-522delinsAGAGAG	NP_000047.1:n.478-527_478-522delinsAGAGAG
NM_001318975.1:c.268-527_268-522delinsAGAGAG	NP_001305904.1:n.268-527_268-522delinsAGAGAG
NM_183050.3:c.478-527_478-522delinsAGAGAG	NP_898871.1:n.478-527_478-522delinsAGAGAG
NR_134945.1:n.562-527_562-522delinsAGAGAG
XM_005248756.5:c.478-527_478-522delinsAGAGAG	XP_005248813.1:n.478-527_478-522delinsAGAGAG
XM_011536023.3:c.478-527_478-522delinsAGAGAG	XP_011534325.1:n.478-527_478-522delinsAGAGAG
XM_011536024.3:c.478-527_478-522delinsAGAGAG	XP_011534326.1:n.478-527_478-522delinsAGAGAG
XM_011536025.3:c.478-527_478-522delinsAGAGAG	XP_011534327.1:n.478-527_478-522delinsAGAGAG
XR_001743546.2:n.508-527_508-522delinsAGAGAG
XR_001743547.2:n.508-527_508-522delinsAGAGAG
XR_001743548.2:n.508-527_508-522delinsAGAGAG
XR_001743549.2:n.508-527_508-522delinsAGAGAG
XR_002956292.1:n.508-527_508-522delinsAGAGAG
NM_183050.4:c.478-527_478-522delinsAGAGAG MANE Select	NP_898871.1:n.478-527_478-522delinsAGAGAG
NR_134945.2:n.501-527_501-522delinsAGAGAG
NM_000056.5:c.478-527_478-522delinsAGAGAG	NP_000047.1:n.478-527_478-522delinsAGAGAG