Canonical Allele Identifier: CA2585308067

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422508-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422511_41422513del , CM000681.2:g.41422511_41422513del	GRCh38
NC_000019.9:g.41928416_41928418del , CM000681.1:g.41928416_41928418del	GRCh37
NC_000019.8:g.46620256_46620258del	NCBI36
NG_013004.1:g.29723_29725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-118_854-116del MANE Select	ENSP00000269980.2:n.854-118_854-116del
ENST00000269980.6:c.854-118_854-116del	ENSP00000269980.2:n.854-118_854-116del
ENST00000457836.6:c.788-118_788-116del	ENSP00000416000.2:n.788-118_788-116del
ENST00000535632.5:n.483-118_483-116del
ENST00000540732.3:c.956-118_956-116del	ENSP00000443246.1:n.956-118_956-116del
ENST00000542943.5:c.767-118_767-116del	ENSP00000440345.1:n.767-118_767-116del
ENST00000545787.1:n.482-118_482-116del
ENST00000595085.5:c.854-118_854-116del	ENSP00000471150.2:n.854-118_854-116del
NM_000709.3:c.854-118_854-116del	NP_000700.1:n.854-118_854-116del
NM_001164783.1:c.854-121_854-119del	NP_001158255.1:n.854-121_854-119del
NM_000709.4:c.854-118_854-116del MANE Select	NP_000700.1:n.854-118_854-116del
NM_001164783.2:c.854-121_854-119del	NP_001158255.1:n.854-121_854-119del