Canonical Allele Identifier: CA2585306861

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41411069-T-TCCCCTACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411069_41411070insCCCCTACC , CM000681.2:g.41411069_41411070insCCCCTACC	GRCh38
NC_000019.9:g.41916974_41916975insCCCCTACC , CM000681.1:g.41916974_41916975insCCCCTACC	GRCh37
NC_000019.8:g.46608814_46608815insCCCCTACC	NCBI36
NG_013004.1:g.18281_18282insCCCCTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+60_375+61insCCCCTACC MANE Select	ENSP00000269980.2:n.375+60_375+61insCCCCTACC
ENST00000269980.6:c.375+60_375+61insCCCCTACC	ENSP00000269980.2:n.375+60_375+61insCCCCTACC
ENST00000457836.6:c.309+60_309+61insCCCCTACC	ENSP00000416000.2:n.309+60_309+61insCCCCTACC
ENST00000538423.5:n.501+60_501+61insCCCCTACC
ENST00000540732.3:c.477+60_477+61insCCCCTACC	ENSP00000443246.1:n.477+60_477+61insCCCCTACC
ENST00000541315.1:c.182+60_182+61insCCCCTACC
ENST00000542943.5:c.288+253_288+254insCCCCTACC	ENSP00000440345.1:n.288+253_288+254insCCCCTACC
ENST00000595085.5:c.375+60_375+61insCCCCTACC	ENSP00000471150.2:n.375+60_375+61insCCCCTACC
NM_000709.3:c.375+60_375+61insCCCCTACC	NP_000700.1:n.375+60_375+61insCCCCTACC
NM_001164783.1:c.375+60_375+61insCCCCTACC	NP_001158255.1:n.375+60_375+61insCCCCTACC
NM_000709.4:c.375+60_375+61insCCCCTACC MANE Select	NP_000700.1:n.375+60_375+61insCCCCTACC
NM_001164783.2:c.375+60_375+61insCCCCTACC	NP_001158255.1:n.375+60_375+61insCCCCTACC