Canonical Allele Identifier: CA2336459977

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424364_41424365delinsCA , CM000681.2:g.41424364_41424365delinsCA	GRCh38
NC_000019.9:g.41930269_41930270delinsCA , CM000681.1:g.41930269_41930270delinsCA	GRCh37
NC_000019.8:g.46622109_46622110delinsCA	NCBI36
NG_013004.1:g.31576_31577delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-74_1168-73delinsCA MANE Select	ENSP00000269980.2:n.1168-74_1168-73delinsCA
ENST00000269980.6:c.1168-74_1168-73delinsCA	ENSP00000269980.2:n.1168-74_1168-73delinsCA
ENST00000457836.6:c.1177-74_1177-73delinsCA	ENSP00000416000.2:n.1177-74_1177-73delinsCA
ENST00000540732.3:c.1270-74_1270-73delinsCA	ENSP00000443246.1:n.1270-74_1270-73delinsCA
ENST00000544905.1:c.62-138_62-137delinsCA
ENST00000595085.5:c.922+1667_922+1668delinsCA	ENSP00000471150.2:n.922+1667_922+1668delinsCA
NM_000709.3:c.1168-74_1168-73delinsCA	NP_000700.1:n.1168-74_1168-73delinsCA
NM_001164783.1:c.1165-74_1165-73delinsCA	NP_001158255.1:n.1165-74_1165-73delinsCA
NM_000709.4:c.1168-74_1168-73delinsCA MANE Select	NP_000700.1:n.1168-74_1168-73delinsCA
NM_001164783.2:c.1165-74_1165-73delinsCA	NP_001158255.1:n.1165-74_1165-73delinsCA