Canonical Allele Identifier: CA2336459970

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424336_41424337delinsCA , CM000681.2:g.41424336_41424337delinsCA	GRCh38
NC_000019.9:g.41930241_41930242delinsCA , CM000681.1:g.41930241_41930242delinsCA	GRCh37
NC_000019.8:g.46622081_46622082delinsCA	NCBI36
NG_013004.1:g.31548_31549delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-102_1168-101delinsCA MANE Select	ENSP00000269980.2:n.1168-102_1168-101delinsCA
ENST00000269980.6:c.1168-102_1168-101delinsCA	ENSP00000269980.2:n.1168-102_1168-101delinsCA
ENST00000457836.6:c.1177-102_1177-101delinsCA	ENSP00000416000.2:n.1177-102_1177-101delinsCA
ENST00000540732.3:c.1270-102_1270-101delinsCA	ENSP00000443246.1:n.1270-102_1270-101delinsCA
ENST00000544905.1:c.62-166_62-165delinsCA
ENST00000595085.5:c.922+1639_922+1640delinsCA	ENSP00000471150.2:n.922+1639_922+1640delinsCA
NM_000709.3:c.1168-102_1168-101delinsCA	NP_000700.1:n.1168-102_1168-101delinsCA
NM_001164783.1:c.1165-102_1165-101delinsCA	NP_001158255.1:n.1165-102_1165-101delinsCA
NM_000709.4:c.1168-102_1168-101delinsCA MANE Select	NP_000700.1:n.1168-102_1168-101delinsCA
NM_001164783.2:c.1165-102_1165-101delinsCA	NP_001158255.1:n.1165-102_1165-101delinsCA