Canonical Allele Identifier: CA2585308074

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422518-G-GGTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422519_41422522dup , CM000681.2:g.41422519_41422522dup	GRCh38
NC_000019.9:g.41928424_41928427dup , CM000681.1:g.41928424_41928427dup	GRCh37
NC_000019.8:g.46620264_46620267dup	NCBI36
NG_013004.1:g.29731_29734dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-110_854-107dup MANE Select	ENSP00000269980.2:n.854-110_854-107dup
ENST00000269980.6:c.854-110_854-107dup	ENSP00000269980.2:n.854-110_854-107dup
ENST00000457836.6:c.788-110_788-107dup	ENSP00000416000.2:n.788-110_788-107dup
ENST00000535632.5:n.483-110_483-107dup
ENST00000540732.3:c.956-110_956-107dup	ENSP00000443246.1:n.956-110_956-107dup
ENST00000542943.5:c.767-110_767-107dup	ENSP00000440345.1:n.767-110_767-107dup
ENST00000545787.1:n.482-110_482-107dup
ENST00000595085.5:c.854-110_854-107dup	ENSP00000471150.2:n.854-110_854-107dup
NM_000709.3:c.854-110_854-107dup	NP_000700.1:n.854-110_854-107dup
NM_001164783.1:c.854-113_854-110dup	NP_001158255.1:n.854-113_854-110dup
NM_000709.4:c.854-110_854-107dup MANE Select	NP_000700.1:n.854-110_854-107dup
NM_001164783.2:c.854-113_854-110dup	NP_001158255.1:n.854-113_854-110dup