Canonical Allele Identifier: CA882340781

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1249364191
• MyVariant Identifiers: chr19:g.41916764_41916765insT (hg19) ; chr19:g.41410859_41410860insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410859_41410860insT , CM000681.2:g.41410859_41410860insT	GRCh38
NC_000019.9:g.41916764_41916765insT , CM000681.1:g.41916764_41916765insT	GRCh37
NC_000019.8:g.46608604_46608605insT	NCBI36
NG_013004.1:g.18071_18072insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.288+43_288+44insT MANE Select	ENSP00000269980.2:n.288+43_288+44insT
ENST00000269980.6:c.288+43_288+44insT	ENSP00000269980.2:n.288+43_288+44insT
ENST00000457836.6:c.222+43_222+44insT	ENSP00000416000.2:n.222+43_222+44insT
ENST00000538423.5:n.351_352insT
ENST00000540732.3:c.390+43_390+44insT	ENSP00000443246.1:n.390+43_390+44insT
ENST00000541315.1:c.95+43_95+44insT
ENST00000542943.5:c.288+43_288+44insT	ENSP00000440345.1:n.288+43_288+44insT
ENST00000595085.5:c.288+43_288+44insT	ENSP00000471150.2:n.288+43_288+44insT
NM_000709.3:c.288+43_288+44insT	NP_000700.1:n.288+43_288+44insT
NM_001164783.1:c.288+43_288+44insT	NP_001158255.1:n.288+43_288+44insT
NM_000709.4:c.288+43_288+44insT MANE Select	NP_000700.1:n.288+43_288+44insT
NM_001164783.2:c.288+43_288+44insT	NP_001158255.1:n.288+43_288+44insT