Canonical Allele Identifier: CA882348918

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1315595786
• gnomAD v3: 19-41422109-AGT-A
• gnomAD v4: 19-41422109-AGT-A
• MyVariant Identifiers: chr19:g.41928015_41928016del (hg19) ; chr19:g.41422110_41422111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422113_41422114del , CM000681.2:g.41422113_41422114del	GRCh38
NC_000019.9:g.41928018_41928019del , CM000681.1:g.41928018_41928019del	GRCh37
NC_000019.8:g.46619858_46619859del	NCBI36
NG_013004.1:g.29325_29326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-51_647-50del MANE Select	ENSP00000269980.2:n.647-51_647-50del
ENST00000269980.6:c.647-51_647-50del	ENSP00000269980.2:n.647-51_647-50del
ENST00000457836.6:c.581-51_581-50del	ENSP00000416000.2:n.581-51_581-50del
ENST00000535632.5:n.276-51_276-50del
ENST00000538423.5:n.773-51_773-50del
ENST00000540732.3:c.749-51_749-50del	ENSP00000443246.1:n.749-51_749-50del
ENST00000541315.1:c.547-51_547-50del
ENST00000542943.5:c.560-51_560-50del	ENSP00000440345.1:n.560-51_560-50del
ENST00000545787.1:n.275-51_275-50del
ENST00000595085.5:c.647-51_647-50del	ENSP00000471150.2:n.647-51_647-50del
NM_000709.3:c.647-51_647-50del	NP_000700.1:n.647-51_647-50del
NM_001164783.1:c.647-51_647-50del	NP_001158255.1:n.647-51_647-50del
NM_000709.4:c.647-51_647-50del MANE Select	NP_000700.1:n.647-51_647-50del
NM_001164783.2:c.647-51_647-50del	NP_001158255.1:n.647-51_647-50del