Canonical Allele Identifier: CA2585308398

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424345-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424347_41424348del , CM000681.2:g.41424347_41424348del	GRCh38
NC_000019.9:g.41930252_41930253del , CM000681.1:g.41930252_41930253del	GRCh37
NC_000019.8:g.46622092_46622093del	NCBI36
NG_013004.1:g.31559_31560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-91_1168-90del MANE Select	ENSP00000269980.2:n.1168-91_1168-90del
ENST00000269980.6:c.1168-91_1168-90del	ENSP00000269980.2:n.1168-91_1168-90del
ENST00000457836.6:c.1177-91_1177-90del	ENSP00000416000.2:n.1177-91_1177-90del
ENST00000540732.3:c.1270-91_1270-90del	ENSP00000443246.1:n.1270-91_1270-90del
ENST00000544905.1:c.62-155_62-154del
ENST00000595085.5:c.922+1650_922+1651del	ENSP00000471150.2:n.922+1650_922+1651del
NM_000709.3:c.1168-91_1168-90del	NP_000700.1:n.1168-91_1168-90del
NM_001164783.1:c.1165-91_1165-90del	NP_001158255.1:n.1165-91_1165-90del
NM_000709.4:c.1168-91_1168-90del MANE Select	NP_000700.1:n.1168-91_1168-90del
NM_001164783.2:c.1165-91_1165-90del	NP_001158255.1:n.1165-91_1165-90del