Canonical Allele Identifier: CA2585307958

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422096-GTGAGTGTGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422106_41422115del , CM000681.2:g.41422106_41422115del	GRCh38
NC_000019.9:g.41928011_41928020del , CM000681.1:g.41928011_41928020del	GRCh37
NC_000019.8:g.46619851_46619860del	NCBI36
NG_013004.1:g.29318_29327del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.647-58_647-49del MANE Select	ENSP00000269980.2:n.647-58_647-49del
ENST00000269980.6:c.647-58_647-49del	ENSP00000269980.2:n.647-58_647-49del
ENST00000457836.6:c.581-58_581-49del	ENSP00000416000.2:n.581-58_581-49del
ENST00000535632.5:n.276-58_276-49del
ENST00000538423.5:n.773-58_773-49del
ENST00000540732.3:c.749-58_749-49del	ENSP00000443246.1:n.749-58_749-49del
ENST00000541315.1:c.547-58_547-49del
ENST00000542943.5:c.560-58_560-49del	ENSP00000440345.1:n.560-58_560-49del
ENST00000545787.1:n.275-58_275-49del
ENST00000595085.5:c.647-58_647-49del	ENSP00000471150.2:n.647-58_647-49del
NM_000709.3:c.647-58_647-49del	NP_000700.1:n.647-58_647-49del
NM_001164783.1:c.647-58_647-49del	NP_001158255.1:n.647-58_647-49del
NM_000709.4:c.647-58_647-49del MANE Select	NP_000700.1:n.647-58_647-49del
NM_001164783.2:c.647-58_647-49del	NP_001158255.1:n.647-58_647-49del