Canonical Allele Identifier: CA2336453974

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411027_41411028delinsTA , CM000681.2:g.41411027_41411028delinsTA	GRCh38
NC_000019.9:g.41916932_41916933delinsTA , CM000681.1:g.41916932_41916933delinsTA	GRCh37
NC_000019.8:g.46608772_46608773delinsTA	NCBI36
NG_013004.1:g.18239_18240delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+18_375+19delinsTA MANE Select	ENSP00000269980.2:n.375+18_375+19delinsTA
ENST00000269980.6:c.375+18_375+19delinsTA	ENSP00000269980.2:n.375+18_375+19delinsTA
ENST00000457836.6:c.309+18_309+19delinsTA	ENSP00000416000.2:n.309+18_309+19delinsTA
ENST00000538423.5:n.501+18_501+19delinsTA
ENST00000540732.3:c.477+18_477+19delinsTA	ENSP00000443246.1:n.477+18_477+19delinsTA
ENST00000541315.1:c.182+18_182+19delinsTA
ENST00000542943.5:c.288+211_288+212delinsTA	ENSP00000440345.1:n.288+211_288+212delinsTA
ENST00000595085.5:c.375+18_375+19delinsTA	ENSP00000471150.2:n.375+18_375+19delinsTA
NM_000709.3:c.375+18_375+19delinsTA	NP_000700.1:n.375+18_375+19delinsTA
NM_001164783.1:c.375+18_375+19delinsTA	NP_001158255.1:n.375+18_375+19delinsTA
NM_000709.4:c.375+18_375+19delinsTA MANE Select	NP_000700.1:n.375+18_375+19delinsTA
NM_001164783.2:c.375+18_375+19delinsTA	NP_001158255.1:n.375+18_375+19delinsTA