Canonical Allele Identifier: CA308515774
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs35521052
MyVariant Identifiers: chr19:g.41916931del (hg19) chr19:g.41411026del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41411026del , CM000681.2:g.41411026del GRCh38
NC_000019.9:g.41916931del , CM000681.1:g.41916931del GRCh37
NC_000019.8:g.46608771del NCBI36
NG_013004.1:g.18238del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.375+17del MANE Select ENSP00000269980.2:n.375+17del
ENST00000269980.6:c.375+17del ENSP00000269980.2:n.375+17del
ENST00000457836.6:c.309+17del ENSP00000416000.2:n.309+17del
ENST00000538423.5:n.501+17del
ENST00000540732.3:c.477+17del ENSP00000443246.1:n.477+17del
ENST00000541315.1:c.182+17del
ENST00000542943.5:c.288+210del ENSP00000440345.1:n.288+210del
ENST00000595085.5:c.375+17del ENSP00000471150.2:n.375+17del
NM_000709.3:c.375+17del NP_000700.1:n.375+17del
NM_001164783.1:c.375+17del NP_001158255.1:n.375+17del
NM_000709.4:c.375+17del MANE Select NP_000700.1:n.375+17del
NM_001164783.2:c.375+17del NP_001158255.1:n.375+17del
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