Canonical Allele Identifier: CA2585308214
Gene: BCKDHA HGNC NCBI

Linked Data

gnomAD v4: 19-41422983-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422985del , CM000681.2:g.41422985del GRCh38
NC_000019.9:g.41928890del , CM000681.1:g.41928890del GRCh37
NC_000019.8:g.46620730del NCBI36
NG_013004.1:g.30197del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-13del MANE Select ENSP00000269980.2:n.996-13del
ENST00000269980.6:c.996-13del ENSP00000269980.2:n.996-13del
ENST00000457836.6:c.992del ENSP00000416000.2:p.Leu331CysfsTer?
ENST00000540732.3:c.1098-13del ENSP00000443246.1:n.1098-13del
ENST00000542943.5:c.909-13del ENSP00000440345.1:n.909-13del
ENST00000595085.5:c.922+288del ENSP00000471150.2:n.922+288del
NM_000709.3:c.996-13del NP_000700.1:n.996-13del
NM_001164783.1:c.993-13del NP_001158255.1:n.993-13del
NM_000709.4:c.996-13del MANE Select NP_000700.1:n.996-13del
NM_001164783.2:c.993-13del NP_001158255.1:n.993-13del
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