Canonical Allele Identifier: CA995977391
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs2039404029
gnomAD v3: 19-41424372-C-CT
gnomAD v4: 19-41424372-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424372_41424373insT , CM000681.2:g.41424372_41424373insT GRCh38
NC_000019.9:g.41930277_41930278insT , CM000681.1:g.41930277_41930278insT GRCh37
NC_000019.8:g.46622117_46622118insT NCBI36
NG_013004.1:g.31584_31585insT

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.1168-66_1168-65insT MANE Select ENSP00000269980.2:n.1168-66_1168-65insT
ENST00000269980.6:c.1168-66_1168-65insT ENSP00000269980.2:n.1168-66_1168-65insT
ENST00000457836.6:c.1177-66_1177-65insT ENSP00000416000.2:n.1177-66_1177-65insT
ENST00000540732.3:c.1270-66_1270-65insT ENSP00000443246.1:n.1270-66_1270-65insT
ENST00000544905.1:c.62-130_62-129insT
ENST00000595085.5:c.922+1675_922+1676insT ENSP00000471150.2:n.922+1675_922+1676insT...
NM_000709.3:c.1168-66_1168-65insT NP_000700.1:n.1168-66_1168-65insT
NM_001164783.1:c.1165-66_1165-65insT NP_001158255.1:n.1165-66_1165-65insT
NM_000709.4:c.1168-66_1168-65insT MANE Select NP_000700.1:n.1168-66_1168-65insT
NM_001164783.2:c.1165-66_1165-65insT NP_001158255.1:n.1165-66_1165-65insT
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