Canonical Allele Identifier: CA2336460053

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424517_41424521delinsTGCCC , CM000681.2:g.41424517_41424521delinsTGCCC	GRCh38
NC_000019.9:g.41930422_41930426delinsTGCCC , CM000681.1:g.41930422_41930426delinsTGCCC	GRCh37
NC_000019.8:g.46622262_46622266delinsTGCCC	NCBI36
NG_013004.1:g.31729_31733delinsTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1247_1251delinsTGCCC MANE Select	ENSP00000269980.2:p.Met416=
ENST00000269980.6:c.1247_1251delinsTGCCC	ENSP00000269980.2:p.Met416=
ENST00000457836.6:c.1256_1260delinsTGCCC	ENSP00000416000.2:p.Met419=
ENST00000540732.3:c.1349_1353delinsTGCCC	ENSP00000443246.1:p.Met450=
ENST00000544905.1:c.77_81delinsTGCCC
ENST00000595085.5:c.922+1820_922+1824delinsTGCCC	ENSP00000471150.2:n.922+1820_922+1824delinsTGCCC
NM_000709.3:c.1247_1251delinsTGCCC	NP_000700.1:p.Met416=
NM_001164783.1:c.1244_1248delinsTGCCC	NP_001158255.1:p.Met415=
NM_000709.4:c.1247_1251delinsTGCCC MANE Select	NP_000700.1:p.Met416=
NM_001164783.2:c.1244_1248delinsTGCCC	NP_001158255.1:p.Met415=