Canonical Allele Identifier: CA2336459978

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424365_41424368delinsAAGG , CM000681.2:g.41424365_41424368delinsAAGG	GRCh38
NC_000019.9:g.41930270_41930273delinsAAGG , CM000681.1:g.41930270_41930273delinsAAGG	GRCh37
NC_000019.8:g.46622110_46622113delinsAAGG	NCBI36
NG_013004.1:g.31577_31580delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-73_1168-70delinsAAGG MANE Select	ENSP00000269980.2:n.1168-73_1168-70delinsAAGG
ENST00000269980.6:c.1168-73_1168-70delinsAAGG	ENSP00000269980.2:n.1168-73_1168-70delinsAAGG
ENST00000457836.6:c.1177-73_1177-70delinsAAGG	ENSP00000416000.2:n.1177-73_1177-70delinsAAGG
ENST00000540732.3:c.1270-73_1270-70delinsAAGG	ENSP00000443246.1:n.1270-73_1270-70delinsAAGG
ENST00000544905.1:c.62-137_62-134delinsAAGG
ENST00000595085.5:c.922+1668_922+1671delinsAAGG	ENSP00000471150.2:n.922+1668_922+1671delinsAAGG
NM_000709.3:c.1168-73_1168-70delinsAAGG	NP_000700.1:n.1168-73_1168-70delinsAAGG
NM_001164783.1:c.1165-73_1165-70delinsAAGG	NP_001158255.1:n.1165-73_1165-70delinsAAGG
NM_000709.4:c.1168-73_1168-70delinsAAGG MANE Select	NP_000700.1:n.1168-73_1168-70delinsAAGG
NM_001164783.2:c.1165-73_1165-70delinsAAGG	NP_001158255.1:n.1165-73_1165-70delinsAAGG