Canonical Allele Identifier: CA2336454001

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411083_41411084delinsAT , CM000681.2:g.41411083_41411084delinsAT	GRCh38
NC_000019.9:g.41916988_41916989delinsAT , CM000681.1:g.41916988_41916989delinsAT	GRCh37
NC_000019.8:g.46608828_46608829delinsAT	NCBI36
NG_013004.1:g.18295_18296delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+74_375+75delinsAT MANE Select	ENSP00000269980.2:n.375+74_375+75delinsAT
ENST00000269980.6:c.375+74_375+75delinsAT	ENSP00000269980.2:n.375+74_375+75delinsAT
ENST00000457836.6:c.309+74_309+75delinsAT	ENSP00000416000.2:n.309+74_309+75delinsAT
ENST00000538423.5:n.501+74_501+75delinsAT
ENST00000540732.3:c.477+74_477+75delinsAT	ENSP00000443246.1:n.477+74_477+75delinsAT
ENST00000541315.1:c.182+74_182+75delinsAT
ENST00000542943.5:c.288+267_288+268delinsAT	ENSP00000440345.1:n.288+267_288+268delinsAT
ENST00000595085.5:c.375+74_375+75delinsAT	ENSP00000471150.2:n.375+74_375+75delinsAT
NM_000709.3:c.375+74_375+75delinsAT	NP_000700.1:n.375+74_375+75delinsAT
NM_001164783.1:c.375+74_375+75delinsAT	NP_001158255.1:n.375+74_375+75delinsAT
NM_000709.4:c.375+74_375+75delinsAT MANE Select	NP_000700.1:n.375+74_375+75delinsAT
NM_001164783.2:c.375+74_375+75delinsAT	NP_001158255.1:n.375+74_375+75delinsAT