Canonical Allele Identifier: CA2336459336

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422907_41422910delinsACTC , CM000681.2:g.41422907_41422910delinsACTC	GRCh38
NC_000019.9:g.41928812_41928815delinsACTC , CM000681.1:g.41928812_41928815delinsACTC	GRCh37
NC_000019.8:g.46620652_46620655delinsACTC	NCBI36
NG_013004.1:g.30119_30122delinsACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-91_996-88delinsACTC MANE Select	ENSP00000269980.2:n.996-91_996-88delinsACTC
ENST00000269980.6:c.996-91_996-88delinsACTC	ENSP00000269980.2:n.996-91_996-88delinsACTC
ENST00000457836.6:c.930-16_930-13delinsACTC	ENSP00000416000.2:n.930-16_930-13delinsACTC
ENST00000540732.3:c.1098-91_1098-88delinsACTC	ENSP00000443246.1:n.1098-91_1098-88delinsACTC
ENST00000542943.5:c.909-91_909-88delinsACTC	ENSP00000440345.1:n.909-91_909-88delinsACTC
ENST00000595085.5:c.922+210_922+213delinsACTC	ENSP00000471150.2:n.922+210_922+213delinsACTC
NM_000709.3:c.996-91_996-88delinsACTC	NP_000700.1:n.996-91_996-88delinsACTC
NM_001164783.1:c.993-91_993-88delinsACTC	NP_001158255.1:n.993-91_993-88delinsACTC
NM_000709.4:c.996-91_996-88delinsACTC MANE Select	NP_000700.1:n.996-91_996-88delinsACTC
NM_001164783.2:c.993-91_993-88delinsACTC	NP_001158255.1:n.993-91_993-88delinsACTC