Canonical Allele Identifier: CA2336454021

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411112_41411113delinsTG , CM000681.2:g.41411112_41411113delinsTG	GRCh38
NC_000019.9:g.41917017_41917018delinsTG , CM000681.1:g.41917017_41917018delinsTG	GRCh37
NC_000019.8:g.46608857_46608858delinsTG	NCBI36
NG_013004.1:g.18324_18325delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+103_375+104delinsTG MANE Select	ENSP00000269980.2:n.375+103_375+104delinsTG
ENST00000269980.6:c.375+103_375+104delinsTG	ENSP00000269980.2:n.375+103_375+104delinsTG
ENST00000457836.6:c.309+103_309+104delinsTG	ENSP00000416000.2:n.309+103_309+104delinsTG
ENST00000538423.5:n.501+103_501+104delinsTG
ENST00000540732.3:c.477+103_477+104delinsTG	ENSP00000443246.1:n.477+103_477+104delinsTG
ENST00000541315.1:c.182+103_182+104delinsTG
ENST00000542943.5:c.288+296_288+297delinsTG	ENSP00000440345.1:n.288+296_288+297delinsTG
ENST00000595085.5:c.375+103_375+104delinsTG	ENSP00000471150.2:n.375+103_375+104delinsTG
NM_000709.3:c.375+103_375+104delinsTG	NP_000700.1:n.375+103_375+104delinsTG
NM_001164783.1:c.375+103_375+104delinsTG	NP_001158255.1:n.375+103_375+104delinsTG
NM_000709.4:c.375+103_375+104delinsTG MANE Select	NP_000700.1:n.375+103_375+104delinsTG
NM_001164783.2:c.375+103_375+104delinsTG	NP_001158255.1:n.375+103_375+104delinsTG