Canonical Allele Identifier: CA2336453972

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411025_41411026delinsAC , CM000681.2:g.41411025_41411026delinsAC	GRCh38
NC_000019.9:g.41916930_41916931delinsAC , CM000681.1:g.41916930_41916931delinsAC	GRCh37
NC_000019.8:g.46608770_46608771delinsAC	NCBI36
NG_013004.1:g.18237_18238delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+16_375+17delinsAC MANE Select	ENSP00000269980.2:n.375+16_375+17delinsAC
ENST00000269980.6:c.375+16_375+17delinsAC	ENSP00000269980.2:n.375+16_375+17delinsAC
ENST00000457836.6:c.309+16_309+17delinsAC	ENSP00000416000.2:n.309+16_309+17delinsAC
ENST00000538423.5:n.501+16_501+17delinsAC
ENST00000540732.3:c.477+16_477+17delinsAC	ENSP00000443246.1:n.477+16_477+17delinsAC
ENST00000541315.1:c.182+16_182+17delinsAC
ENST00000542943.5:c.288+209_288+210delinsAC	ENSP00000440345.1:n.288+209_288+210delinsAC
ENST00000595085.5:c.375+16_375+17delinsAC	ENSP00000471150.2:n.375+16_375+17delinsAC
NM_000709.3:c.375+16_375+17delinsAC	NP_000700.1:n.375+16_375+17delinsAC
NM_001164783.1:c.375+16_375+17delinsAC	NP_001158255.1:n.375+16_375+17delinsAC
NM_000709.4:c.375+16_375+17delinsAC MANE Select	NP_000700.1:n.375+16_375+17delinsAC
NM_001164783.2:c.375+16_375+17delinsAC	NP_001158255.1:n.375+16_375+17delinsAC