Canonical Allele Identifier: CA920111005

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1555767132
• gnomAD v4: 19-41422962-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422962_41422963insA , CM000681.2:g.41422962_41422963insA	GRCh38
NC_000019.9:g.41928867_41928868insA , CM000681.1:g.41928867_41928868insA	GRCh37
NC_000019.8:g.46620707_46620708insA	NCBI36
NG_013004.1:g.30174_30175insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-36_996-35insA MANE Select	ENSP00000269980.2:n.996-36_996-35insA
ENST00000269980.6:c.996-36_996-35insA	ENSP00000269980.2:n.996-36_996-35insA
ENST00000457836.6:c.969_970insA	ENSP00000416000.2:p.Pro324ThrfsTer20
ENST00000540732.3:c.1098-36_1098-35insA	ENSP00000443246.1:n.1098-36_1098-35insA
ENST00000542943.5:c.909-36_909-35insA	ENSP00000440345.1:n.909-36_909-35insA
ENST00000595085.5:c.922+265_922+266insA	ENSP00000471150.2:n.922+265_922+266insA
NM_000709.3:c.996-36_996-35insA	NP_000700.1:n.996-36_996-35insA
NM_001164783.1:c.993-36_993-35insA	NP_001158255.1:n.993-36_993-35insA
NM_000709.4:c.996-36_996-35insA MANE Select	NP_000700.1:n.996-36_996-35insA
NM_001164783.2:c.993-36_993-35insA	NP_001158255.1:n.993-36_993-35insA