Canonical Allele Identifier: CA2336459375

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422975_41422976delinsTG , CM000681.2:g.41422975_41422976delinsTG	GRCh38
NC_000019.9:g.41928880_41928881delinsTG , CM000681.1:g.41928880_41928881delinsTG	GRCh37
NC_000019.8:g.46620720_46620721delinsTG	NCBI36
NG_013004.1:g.30187_30188delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-23_996-22delinsTG MANE Select	ENSP00000269980.2:n.996-23_996-22delinsTG
ENST00000269980.6:c.996-23_996-22delinsTG	ENSP00000269980.2:n.996-23_996-22delinsTG
ENST00000457836.6:c.982_983delinsTG	ENSP00000416000.2:p.Trp328=
ENST00000540732.3:c.1098-23_1098-22delinsTG	ENSP00000443246.1:n.1098-23_1098-22delinsTG
ENST00000542943.5:c.909-23_909-22delinsTG	ENSP00000440345.1:n.909-23_909-22delinsTG
ENST00000595085.5:c.922+278_922+279delinsTG	ENSP00000471150.2:n.922+278_922+279delinsTG
NM_000709.3:c.996-23_996-22delinsTG	NP_000700.1:n.996-23_996-22delinsTG
NM_001164783.1:c.993-23_993-22delinsTG	NP_001158255.1:n.993-23_993-22delinsTG
NM_000709.4:c.996-23_996-22delinsTG MANE Select	NP_000700.1:n.996-23_996-22delinsTG
NM_001164783.2:c.993-23_993-22delinsTG	NP_001158255.1:n.993-23_993-22delinsTG