Canonical Allele Identifier: CA2585308207

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422964-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422964_41422965insA , CM000681.2:g.41422964_41422965insA	GRCh38
NC_000019.9:g.41928869_41928870insA , CM000681.1:g.41928869_41928870insA	GRCh37
NC_000019.8:g.46620709_46620710insA	NCBI36
NG_013004.1:g.30176_30177insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-34_996-33insA MANE Select	ENSP00000269980.2:n.996-34_996-33insA
ENST00000269980.6:c.996-34_996-33insA	ENSP00000269980.2:n.996-34_996-33insA
ENST00000457836.6:c.971_972insA	ENSP00000416000.2:p.Thr325HisfsTer19
ENST00000540732.3:c.1098-34_1098-33insA	ENSP00000443246.1:n.1098-34_1098-33insA
ENST00000542943.5:c.909-34_909-33insA	ENSP00000440345.1:n.909-34_909-33insA
ENST00000595085.5:c.922+267_922+268insA	ENSP00000471150.2:n.922+267_922+268insA
NM_000709.3:c.996-34_996-33insA	NP_000700.1:n.996-34_996-33insA
NM_001164783.1:c.993-34_993-33insA	NP_001158255.1:n.993-34_993-33insA
NM_000709.4:c.996-34_996-33insA MANE Select	NP_000700.1:n.996-34_996-33insA
NM_001164783.2:c.993-34_993-33insA	NP_001158255.1:n.993-34_993-33insA