Canonical Allele Identifier: CA920111402

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1599953473
• gnomAD v4: 19-41411114-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411114_41411115insA , CM000681.2:g.41411114_41411115insA	GRCh38
NC_000019.9:g.41917019_41917020insA , CM000681.1:g.41917019_41917020insA	GRCh37
NC_000019.8:g.46608859_46608860insA	NCBI36
NG_013004.1:g.18326_18327insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+105_375+106insA MANE Select	ENSP00000269980.2:n.375+105_375+106insA
ENST00000269980.6:c.375+105_375+106insA	ENSP00000269980.2:n.375+105_375+106insA
ENST00000457836.6:c.309+105_309+106insA	ENSP00000416000.2:n.309+105_309+106insA
ENST00000538423.5:n.501+105_501+106insA
ENST00000540732.3:c.477+105_477+106insA	ENSP00000443246.1:n.477+105_477+106insA
ENST00000541315.1:c.182+105_182+106insA
ENST00000542943.5:c.288+298_288+299insA	ENSP00000440345.1:n.288+298_288+299insA
ENST00000595085.5:c.375+105_375+106insA	ENSP00000471150.2:n.375+105_375+106insA
NM_000709.3:c.375+105_375+106insA	NP_000700.1:n.375+105_375+106insA
NM_001164783.1:c.375+105_375+106insA	NP_001158255.1:n.375+105_375+106insA
NM_000709.4:c.375+105_375+106insA MANE Select	NP_000700.1:n.375+105_375+106insA
NM_001164783.2:c.375+105_375+106insA	NP_001158255.1:n.375+105_375+106insA