Canonical Allele Identifier: CA2695228774

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424552_41424554del , CM000681.2:g.41424552_41424554del	GRCh38
NC_000019.9:g.41930457_41930459del , CM000681.1:g.41930457_41930459del	GRCh37
NC_000019.8:g.46622297_46622299del	NCBI36
NG_013004.1:g.31764_31766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1282_1284del MANE Select	ENSP00000269980.2:p.Ala428del
ENST00000269980.6:c.1282_1284del	ENSP00000269980.2:p.Ala428del
ENST00000457836.6:c.1291_1293del	ENSP00000416000.2:p.Ala431del
ENST00000540732.3:c.1384_1386del	ENSP00000443246.1:p.Ala462del
ENST00000544905.1:c.112_114del
ENST00000595085.5:c.922+1855_922+1857del	ENSP00000471150.2:n.922+1855_922+1857del
NM_000709.3:c.1282_1284del	NP_000700.1:p.Ala428del
NM_001164783.1:c.1279_1281del	NP_001158255.1:p.Ala427del
NM_000709.4:c.1282_1284del MANE Select	NP_000700.1:p.Ala428del
NM_001164783.2:c.1279_1281del	NP_001158255.1:p.Ala427del