Canonical Allele Identifier: CA2585308205
Gene: BCKDHA HGNC NCBI

Linked Data

gnomAD v4: 19-41422960-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422961dup , CM000681.2:g.41422961dup GRCh38
NC_000019.9:g.41928866dup , CM000681.1:g.41928866dup GRCh37
NC_000019.8:g.46620706dup NCBI36
NG_013004.1:g.30173dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-37dup MANE Select ENSP00000269980.2:n.996-37dup
ENST00000269980.6:c.996-37dup ENSP00000269980.2:n.996-37dup
ENST00000457836.6:c.968dup ENSP00000416000.2:p.Pro324AlafsTer20
ENST00000540732.3:c.1098-37dup ENSP00000443246.1:n.1098-37dup
ENST00000542943.5:c.909-37dup ENSP00000440345.1:n.909-37dup
ENST00000595085.5:c.922+264dup ENSP00000471150.2:n.922+264dup
NM_000709.3:c.996-37dup NP_000700.1:n.996-37dup
NM_001164783.1:c.993-37dup NP_001158255.1:n.993-37dup
NM_000709.4:c.996-37dup MANE Select NP_000700.1:n.996-37dup
NM_001164783.2:c.993-37dup NP_001158255.1:n.993-37dup
Search 100 bp 5'
Search 100 bp 3'