Canonical Allele Identifier: CA308527729

Gene: BCKDHA

Linked Data

• dbSNP Id: rs950378764
• MyVariant Identifiers: chr19:g.41930270del (hg19) ; chr19:g.41424365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424366del , CM000681.2:g.41424366del	GRCh38
NC_000019.9:g.41930271del , CM000681.1:g.41930271del	GRCh37
NC_000019.8:g.46622111del	NCBI36
NG_013004.1:g.31578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-72del MANE Select	ENSP00000269980.2:n.1168-72del
ENST00000269980.6:c.1168-72del	ENSP00000269980.2:n.1168-72del
ENST00000457836.6:c.1177-72del	ENSP00000416000.2:n.1177-72del
ENST00000540732.3:c.1270-72del	ENSP00000443246.1:n.1270-72del
ENST00000544905.1:c.62-136del
ENST00000595085.5:c.922+1669del	ENSP00000471150.2:n.922+1669del
NM_000709.3:c.1168-72del	NP_000700.1:n.1168-72del
NM_001164783.1:c.1165-72del	NP_001158255.1:n.1165-72del
NM_000709.4:c.1168-72del MANE Select	NP_000700.1:n.1168-72del
NM_001164783.2:c.1165-72del	NP_001158255.1:n.1165-72del