Canonical Allele Identifier: CA633470396

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1423769312
• gnomAD v2: 19-41928812-ACTC-A
• gnomAD v4: 19-41422907-ACTC-A
• MyVariant Identifiers: chr19:g.41928813_41928815del (hg19) ; chr19:g.41422908_41422910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422913_41422915del , CM000681.2:g.41422913_41422915del	GRCh38
NC_000019.9:g.41928818_41928820del , CM000681.1:g.41928818_41928820del	GRCh37
NC_000019.8:g.46620658_46620660del	NCBI36
NG_013004.1:g.30125_30127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-85_996-83del MANE Select	ENSP00000269980.2:n.996-85_996-83del
ENST00000269980.6:c.996-85_996-83del	ENSP00000269980.2:n.996-85_996-83del
ENST00000457836.6:c.930-10_930-8del	ENSP00000416000.2:n.930-10_930-8del
ENST00000540732.3:c.1098-85_1098-83del	ENSP00000443246.1:n.1098-85_1098-83del
ENST00000542943.5:c.909-85_909-83del	ENSP00000440345.1:n.909-85_909-83del
ENST00000595085.5:c.922+216_922+218del	ENSP00000471150.2:n.922+216_922+218del
NM_000709.3:c.996-85_996-83del	NP_000700.1:n.996-85_996-83del
NM_001164783.1:c.993-85_993-83del	NP_001158255.1:n.993-85_993-83del
NM_000709.4:c.996-85_996-83del MANE Select	NP_000700.1:n.996-85_996-83del
NM_001164783.2:c.993-85_993-83del	NP_001158255.1:n.993-85_993-83del