Canonical Allele Identifier: CA2585308361

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424307-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424309del , CM000681.2:g.41424309del	GRCh38
NC_000019.9:g.41930214del , CM000681.1:g.41930214del	GRCh37
NC_000019.8:g.46622054del	NCBI36
NG_013004.1:g.31521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1168-129del MANE Select	ENSP00000269980.2:n.1168-129del
ENST00000269980.6:c.1168-129del	ENSP00000269980.2:n.1168-129del
ENST00000457836.6:c.1177-129del	ENSP00000416000.2:n.1177-129del
ENST00000540732.3:c.1270-129del	ENSP00000443246.1:n.1270-129del
ENST00000544905.1:c.62-193del
ENST00000595085.5:c.922+1612del	ENSP00000471150.2:n.922+1612del
NM_000709.3:c.1168-129del	NP_000700.1:n.1168-129del
NM_001164783.1:c.1165-129del	NP_001158255.1:n.1165-129del
NM_000709.4:c.1168-129del MANE Select	NP_000700.1:n.1168-129del
NM_001164783.2:c.1165-129del	NP_001158255.1:n.1165-129del