Canonical Allele Identifier: CA2336459107

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422411_41422414delinsTCTC , CM000681.2:g.41422411_41422414delinsTCTC	GRCh38
NC_000019.9:g.41928316_41928319delinsTCTC , CM000681.1:g.41928316_41928319delinsTCTC	GRCh37
NC_000019.8:g.46620156_46620159delinsTCTC	NCBI36
NG_013004.1:g.29623_29626delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+41_853+44delinsTCTC MANE Select	ENSP00000269980.2:n.853+41_853+44delinsTCTC
ENST00000269980.6:c.853+41_853+44delinsTCTC	ENSP00000269980.2:n.853+41_853+44delinsTCTC
ENST00000457836.6:c.787+41_787+44delinsTCTC	ENSP00000416000.2:n.787+41_787+44delinsTCTC
ENST00000535632.5:n.482+41_482+44delinsTCTC
ENST00000540732.3:c.955+41_955+44delinsTCTC	ENSP00000443246.1:n.955+41_955+44delinsTCTC
ENST00000542943.5:c.766+41_766+44delinsTCTC	ENSP00000440345.1:n.766+41_766+44delinsTCTC
ENST00000545787.1:n.481+41_481+44delinsTCTC
ENST00000595085.5:c.853+41_853+44delinsTCTC	ENSP00000471150.2:n.853+41_853+44delinsTCTC
NM_000709.3:c.853+41_853+44delinsTCTC	NP_000700.1:n.853+41_853+44delinsTCTC
NM_001164783.1:c.853+41_853+44delinsTCTC	NP_001158255.1:n.853+41_853+44delinsTCTC
NM_000709.4:c.853+41_853+44delinsTCTC MANE Select	NP_000700.1:n.853+41_853+44delinsTCTC
NM_001164783.2:c.853+41_853+44delinsTCTC	NP_001158255.1:n.853+41_853+44delinsTCTC