Canonical Allele Identifier: CA2336458870

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41421946_41421981delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG , CM000681.2:g.41421946_41421981delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	GRCh38
NC_000019.9:g.41927851_41927886delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG , CM000681.1:g.41927851_41927886delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	GRCh37
NC_000019.8:g.46619691_46619726delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	NCBI36
NG_013004.1:g.29158_29193delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG MANE Select	ENSP00000269980.2:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTG...
ENST00000269980.6:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	ENSP00000269980.2:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTG...
ENST00000457836.6:c.581-218_581-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	ENSP00000416000.2:n.581-218_581-183delinsCCTGAGCAGTTGGAAGGGTG...
ENST00000535632.5:n.276-218_276-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG
ENST00000538423.5:n.773-218_773-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG
ENST00000540732.3:c.749-218_749-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	ENSP00000443246.1:n.749-218_749-183delinsCCTGAGCAGTTGGAAGGGTG...
ENST00000541315.1:c.547-218_547-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG
ENST00000542943.5:c.560-218_560-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	ENSP00000440345.1:n.560-218_560-183delinsCCTGAGCAGTTGGAAGGGTG...
ENST00000545787.1:n.275-218_275-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG
ENST00000595085.5:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	ENSP00000471150.2:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTG...
NM_000709.3:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	NP_000700.1:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTG...
NM_001164783.1:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	NP_001158255.1:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAG...
NM_000709.4:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG MANE Select	NP_000700.1:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTG...
NM_001164783.2:c.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAGTTGCTTTCAGCTG	NP_001158255.1:n.647-218_647-183delinsCCTGAGCAGTTGGAAGGGTGGAG...