Canonical Allele Identifier: CA2336459395

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423003_41423011delinsGGCACCACA , CM000681.2:g.41423003_41423011delinsGGCACCACA	GRCh38
NC_000019.9:g.41928908_41928916delinsGGCACCACA , CM000681.1:g.41928908_41928916delinsGGCACCACA	GRCh37
NC_000019.8:g.46620748_46620756delinsGGCACCACA	NCBI36
NG_013004.1:g.30215_30223delinsGGCACCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1001_1009delinsGGCACCACA MANE Select	ENSP00000269980.2:p.Gly334=
ENST00000269980.6:c.1001_1009delinsGGCACCACA	ENSP00000269980.2:p.Gly334=
ENST00000457836.6:c.1010_1018delinsGGCACCACA	ENSP00000416000.2:p.Gly337=
ENST00000540732.3:c.1103_1111delinsGGCACCACA	ENSP00000443246.1:p.Gly368=
ENST00000542943.5:c.914_922delinsGGCACCACA	ENSP00000440345.1:p.Gly305=
ENST00000595085.5:c.922+306_922+314delinsGGCACCACA	ENSP00000471150.2:n.922+306_922+314delinsGGCACCACA
NM_000709.3:c.1001_1009delinsGGCACCACA	NP_000700.1:p.Gly334=
NM_001164783.1:c.998_1006delinsGGCACCACA	NP_001158255.1:p.Gly333=
NM_000709.4:c.1001_1009delinsGGCACCACA MANE Select	NP_000700.1:p.Gly334=
NM_001164783.2:c.998_1006delinsGGCACCACA	NP_001158255.1:p.Gly333=