Allele Registry

Canonical Allele Identifier: CA16618333

Gene: BCKDHB HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr6:g.80200967del

GRCh37 chr6:g.80910684del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000480050

ClinVar Variation:

424275

dbSNP:

1064796892

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80200967del , CM000668.2:g.80200967del	GRCh38
NC_000006.11:g.80910684del , CM000668.1:g.80910684del	GRCh37
NC_000006.10:g.80967403del	NCBI36
NG_009775.1:g.99341del
NG_009775.2:g.99341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.776del MANE Select	ENSP00000318351.5:p.Pro259HisfsTer16
ENST00000320393.8:c.776del	ENSP00000318351.5:p.Pro259HisfsTer16
ENST00000356489.9:c.776del	ENSP00000348880.5:p.Pro259HisfsTer16
NM_000056.3:c.776del	NP_000047.1:p.Pro259HisfsTer16
NM_183050.2:c.776del	NP_898871.1:p.Pro259HisfsTer16
XM_005248756.3:c.776del	XP_005248813.1:p.Pro259HisfsTer16
XM_006715542.2:c.566del	XP_006715605.1:p.Pro189HisfsTer16
XM_011536023.1:c.776del	XP_011534325.1:p.Pro259HisfsTer16
XM_011536024.1:c.776del	XP_011534326.1:p.Pro259HisfsTer16
XM_011536025.1:c.776del	XP_011534327.1:p.Pro259HisfsTer16
XM_011536026.1:c.566del	XP_011534328.1:p.Pro189HisfsTer16
NM_000056.4:c.776del	NP_000047.1:p.Pro259HisfsTer16
NM_001318975.1:c.566del	NP_001305904.1:p.Pro189HisfsTer16
NM_183050.3:c.776del	NP_898871.1:p.Pro259HisfsTer16
NR_134945.1:n.954del
XM_005248756.5:c.776del	XP_005248813.1:p.Pro259HisfsTer16
XM_011536023.3:c.776del	XP_011534325.1:p.Pro259HisfsTer16
XM_011536024.3:c.776del	XP_011534326.1:p.Pro259HisfsTer16
XM_011536025.3:c.776del	XP_011534327.1:p.Pro259HisfsTer16
XR_001743546.2:n.806del
XR_001743547.2:n.806del
XR_001743548.2:n.806del
XR_001743549.2:n.806del
XR_002956292.1:n.806del
NM_183050.4:c.776del MANE Select	NP_898871.1:p.Pro259HisfsTer16
NR_134945.2:n.893del
NM_000056.5:c.776del	NP_000047.1:p.Pro259HisfsTer16

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