Canonical Allele Identifier: CA995977497

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039406304
• gnomAD v3: 19-41424517-TGCCC-T
• gnomAD v4: 19-41424517-TGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424522_41424525del , CM000681.2:g.41424522_41424525del	GRCh38
NC_000019.9:g.41930427_41930430del , CM000681.1:g.41930427_41930430del	GRCh37
NC_000019.8:g.46622267_46622270del	NCBI36
NG_013004.1:g.31734_31737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1252_1255del MANE Select	ENSP00000269980.2:p.Ala418SerfsTer?
ENST00000269980.6:c.1252_1255del	ENSP00000269980.2:p.Ala418SerfsTer?
ENST00000457836.6:c.1261_1264del	ENSP00000416000.2:p.Ala421SerfsTer?
ENST00000540732.3:c.1354_1357del	ENSP00000443246.1:p.Ala452SerfsTer?
ENST00000544905.1:c.82_85del
ENST00000595085.5:c.922+1825_922+1828del	ENSP00000471150.2:n.922+1825_922+1828del
NM_000709.3:c.1252_1255del	NP_000700.1:p.Ala418SerfsTer?
NM_001164783.1:c.1249_1252del	NP_001158255.1:p.Ala417SerfsTer?
NM_000709.4:c.1252_1255del MANE Select	NP_000700.1:p.Ala418SerfsTer?
NM_001164783.2:c.1249_1252del	NP_001158255.1:p.Ala417SerfsTer?