Canonical Allele Identifier: CA1090990529

Gene: BCKDHB

Linked Data

• gnomAD v3: 6-80168414-GAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGA-G
• gnomAD v4: 6-80168414-GAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168424_80168552del , CM000668.2:g.80168424_80168552del	GRCh38
NC_000006.11:g.80878141_80878269del , CM000668.1:g.80878141_80878269del	GRCh37
NC_000006.10:g.80934860_80934988del	NCBI36
NG_009775.1:g.66798_66926del
NG_009775.2:g.66798_66926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-451_478-323del MANE Select	ENSP00000318351.5:n.478-451_478-323del
ENST00000320393.8:c.478-451_478-323del	ENSP00000318351.5:n.478-451_478-323del
ENST00000356489.9:c.478-451_478-323del	ENSP00000348880.5:n.478-451_478-323del
ENST00000369760.8:c.478-451_478-323del	ENSP00000358775.4:n.478-451_478-323del
NM_000056.3:c.478-451_478-323del	NP_000047.1:n.478-451_478-323del
NM_183050.2:c.478-451_478-323del	NP_898871.1:n.478-451_478-323del
XM_005248756.3:c.478-451_478-323del	XP_005248813.1:n.478-451_478-323del
XM_006715542.2:c.268-451_268-323del	XP_006715605.1:n.268-451_268-323del
XM_011536023.1:c.478-451_478-323del	XP_011534325.1:n.478-451_478-323del
XM_011536024.1:c.478-451_478-323del	XP_011534326.1:n.478-451_478-323del
XM_011536025.1:c.478-451_478-323del	XP_011534327.1:n.478-451_478-323del
XM_011536026.1:c.268-451_268-323del	XP_011534328.1:n.268-451_268-323del
XM_011536027.1:c.478-451_478-323del	XP_011534329.1:n.478-451_478-323del
NM_000056.4:c.478-451_478-323del	NP_000047.1:n.478-451_478-323del
NM_001318975.1:c.268-451_268-323del	NP_001305904.1:n.268-451_268-323del
NM_183050.3:c.478-451_478-323del	NP_898871.1:n.478-451_478-323del
NR_134945.1:n.562-451_562-323del
XM_005248756.5:c.478-451_478-323del	XP_005248813.1:n.478-451_478-323del
XM_011536023.3:c.478-451_478-323del	XP_011534325.1:n.478-451_478-323del
XM_011536024.3:c.478-451_478-323del	XP_011534326.1:n.478-451_478-323del
XM_011536025.3:c.478-451_478-323del	XP_011534327.1:n.478-451_478-323del
XR_001743546.2:n.508-451_508-323del
XR_001743547.2:n.508-451_508-323del
XR_001743548.2:n.508-451_508-323del
XR_001743549.2:n.508-451_508-323del
XR_002956292.1:n.508-451_508-323del
NM_183050.4:c.478-451_478-323del MANE Select	NP_898871.1:n.478-451_478-323del
NR_134945.2:n.501-451_501-323del
NM_000056.5:c.478-451_478-323del	NP_000047.1:n.478-451_478-323del