Canonical Allele Identifier: CA2576793827

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422383_41422384del , CM000681.2:g.41422383_41422384del	GRCh38
NC_000019.9:g.41928288_41928289del , CM000681.1:g.41928288_41928289del	GRCh37
NC_000019.8:g.46620128_46620129del	NCBI36
NG_013004.1:g.29595_29596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+13_853+14del MANE Select	ENSP00000269980.2:n.853+13_853+14del
ENST00000269980.6:c.853+13_853+14del	ENSP00000269980.2:n.853+13_853+14del
ENST00000457836.6:c.787+13_787+14del	ENSP00000416000.2:n.787+13_787+14del
ENST00000535632.5:n.482+13_482+14del
ENST00000540732.3:c.955+13_955+14del	ENSP00000443246.1:n.955+13_955+14del
ENST00000542943.5:c.766+13_766+14del	ENSP00000440345.1:n.766+13_766+14del
ENST00000545787.1:n.481+13_481+14del
ENST00000595085.5:c.853+13_853+14del	ENSP00000471150.2:n.853+13_853+14del
NM_000709.3:c.853+13_853+14del	NP_000700.1:n.853+13_853+14del
NM_001164783.1:c.853+13_853+14del	NP_001158255.1:n.853+13_853+14del
NM_000709.4:c.853+13_853+14del MANE Select	NP_000700.1:n.853+13_853+14del
NM_001164783.2:c.853+13_853+14del	NP_001158255.1:n.853+13_853+14del