Canonical Allele Identifier: CA2739276840
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2810094
ClinVar RCV Id: RCV003637037
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424427dup , CM000681.2:g.41424427dup GRCh38
NC_000019.9:g.41930332dup , CM000681.1:g.41930332dup GRCh37
NC_000019.8:g.46622172dup NCBI36
NG_013004.1:g.31639dup

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.1168-11dup MANE Select ENSP00000269980.2:n.1168-11dup
ENST00000269980.6:c.1168-11dup ENSP00000269980.2:n.1168-11dup
ENST00000457836.6:c.1177-11dup ENSP00000416000.2:n.1177-11dup
ENST00000540732.3:c.1270-11dup ENSP00000443246.1:n.1270-11dup
ENST00000544905.1:c.62-75dup
ENST00000595085.5:c.922+1730dup ENSP00000471150.2:n.922+1730dup
NM_000709.3:c.1168-11dup NP_000700.1:n.1168-11dup
NM_001164783.1:c.1165-11dup NP_001158255.1:n.1165-11dup
NM_000709.4:c.1168-11dup MANE Select NP_000700.1:n.1168-11dup
NM_001164783.2:c.1165-11dup NP_001158255.1:n.1165-11dup
Search 100 bp 5'
Search 100 bp 3'