Canonical Allele Identifier: CA882351739

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1351124466
• gnomAD v3: 19-41424374-C-CAGG
• gnomAD v4: 19-41424374-C-CAGG
• MyVariant Identifiers: chr19:g.41930279_41930280insAGG (hg19) ; chr19:g.41424374_41424375insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424379_41424381dup , CM000681.2:g.41424379_41424381dup	GRCh38
NC_000019.9:g.41930284_41930286dup , CM000681.1:g.41930284_41930286dup	GRCh37
NC_000019.8:g.46622124_46622126dup	NCBI36
NG_013004.1:g.31591_31593dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1168-59_1168-57dup MANE Select	ENSP00000269980.2:n.1168-59_1168-57dup
ENST00000269980.6:c.1168-59_1168-57dup	ENSP00000269980.2:n.1168-59_1168-57dup
ENST00000457836.6:c.1177-59_1177-57dup	ENSP00000416000.2:n.1177-59_1177-57dup
ENST00000540732.3:c.1270-59_1270-57dup	ENSP00000443246.1:n.1270-59_1270-57dup
ENST00000544905.1:c.62-123_62-121dup
ENST00000595085.5:c.922+1682_922+1684dup	ENSP00000471150.2:n.922+1682_922+1684dup
NM_000709.3:c.1168-59_1168-57dup	NP_000700.1:n.1168-59_1168-57dup
NM_001164783.1:c.1165-59_1165-57dup	NP_001158255.1:n.1165-59_1165-57dup
NM_000709.4:c.1168-59_1168-57dup MANE Select	NP_000700.1:n.1168-59_1168-57dup
NM_001164783.2:c.1165-59_1165-57dup	NP_001158255.1:n.1165-59_1165-57dup