Canonical Allele Identifier: CA2336459960

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424317_41424318delinsCA , CM000681.2:g.41424317_41424318delinsCA	GRCh38
NC_000019.9:g.41930222_41930223delinsCA , CM000681.1:g.41930222_41930223delinsCA	GRCh37
NC_000019.8:g.46622062_46622063delinsCA	NCBI36
NG_013004.1:g.31529_31530delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1168-121_1168-120delinsCA MANE Select	ENSP00000269980.2:n.1168-121_1168-120delinsCA
ENST00000269980.6:c.1168-121_1168-120delinsCA	ENSP00000269980.2:n.1168-121_1168-120delinsCA
ENST00000457836.6:c.1177-121_1177-120delinsCA	ENSP00000416000.2:n.1177-121_1177-120delinsCA
ENST00000540732.3:c.1270-121_1270-120delinsCA	ENSP00000443246.1:n.1270-121_1270-120delinsCA
ENST00000544905.1:c.62-185_62-184delinsCA
ENST00000595085.5:c.922+1620_922+1621delinsCA	ENSP00000471150.2:n.922+1620_922+1621delinsCA
NM_000709.3:c.1168-121_1168-120delinsCA	NP_000700.1:n.1168-121_1168-120delinsCA
NM_001164783.1:c.1165-121_1165-120delinsCA	NP_001158255.1:n.1165-121_1165-120delinsCA
NM_000709.4:c.1168-121_1168-120delinsCA MANE Select	NP_000700.1:n.1168-121_1168-120delinsCA
NM_001164783.2:c.1165-121_1165-120delinsCA	NP_001158255.1:n.1165-121_1165-120delinsCA