Canonical Allele Identifier: CA16043981

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414072delinsAA , CM000681.2:g.41414072delinsAA	GRCh38
NC_000019.9:g.41919977delinsAA , CM000681.1:g.41919977delinsAA	GRCh37
NC_000019.8:g.46611817delinsAA	NCBI36
NG_013004.1:g.21284delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.399delinsAA MANE Select	NP_000700.1:p.Asn134LysfsTer4
ENST00000269980.7:c.399delinsAA MANE Select	ENSP00000269980.2:p.Asn134LysfsTer4
NM_000709.3:c.399delinsAA	NP_000700.1:p.Asn134LysfsTer4
NM_001164783.1:c.399delinsAA	NP_001158255.1:p.Asn134LysfsTer4
NM_001164783.2:c.399delinsAA	NP_001158255.1:p.Asn134LysfsTer4
ENST00000269980.6:c.399delinsAA	ENSP00000269980.2:p.Asn134LysfsTer4
ENST00000457836.6:c.333delinsAA	ENSP00000416000.2:p.Asn112LysfsTer4
ENST00000538423.5:n.525delinsAA
ENST00000540732.3:c.501delinsAA	ENSP00000443246.1:p.Asn168LysfsTer4
ENST00000541315.1:c.206delinsAA
ENST00000542943.5:c.312delinsAA	ENSP00000440345.1:p.Asn105LysfsTer4
ENST00000595085.5:c.399delinsAA	ENSP00000471150.2:p.Asn134LysfsTer4