Canonical Allele Identifier: CA1640937800

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168989_80168991delinsCAG , CM000668.2:g.80168989_80168991delinsCAG	GRCh38
NC_000006.11:g.80878706_80878708delinsCAG , CM000668.1:g.80878706_80878708delinsCAG	GRCh37
NC_000006.10:g.80935425_80935427delinsCAG	NCBI36
NG_009775.1:g.67363_67365delinsCAG
NG_009775.2:g.67363_67365delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.592_594delinsCAG MANE Select	ENSP00000318351.5:p.Gln198=
ENST00000320393.8:c.592_594delinsCAG	ENSP00000318351.5:p.Gln198=
ENST00000356489.9:c.592_594delinsCAG	ENSP00000348880.5:p.Gln198=
ENST00000369760.8:c.592_594delinsCAG	ENSP00000358775.4:p.Gln198=
NM_000056.3:c.592_594delinsCAG	NP_000047.1:p.Gln198=
NM_183050.2:c.592_594delinsCAG	NP_898871.1:p.Gln198=
XM_005248756.3:c.592_594delinsCAG	XP_005248813.1:p.Gln198=
XM_006715542.2:c.382_384delinsCAG	XP_006715605.1:p.Gln128=
XM_011536023.1:c.592_594delinsCAG	XP_011534325.1:p.Gln198=
XM_011536024.1:c.592_594delinsCAG	XP_011534326.1:p.Gln198=
XM_011536025.1:c.592_594delinsCAG	XP_011534327.1:p.Gln198=
XM_011536026.1:c.382_384delinsCAG	XP_011534328.1:p.Gln128=
XM_011536027.1:c.592_594delinsCAG	XP_011534329.1:p.Gln198=
NM_000056.4:c.592_594delinsCAG	NP_000047.1:p.Gln198=
NM_001318975.1:c.382_384delinsCAG	NP_001305904.1:p.Gln128=
NM_183050.3:c.592_594delinsCAG	NP_898871.1:p.Gln198=
NR_134945.1:n.676_678delinsCAG
XM_005248756.5:c.592_594delinsCAG	XP_005248813.1:p.Gln198=
XM_011536023.3:c.592_594delinsCAG	XP_011534325.1:p.Gln198=
XM_011536024.3:c.592_594delinsCAG	XP_011534326.1:p.Gln198=
XM_011536025.3:c.592_594delinsCAG	XP_011534327.1:p.Gln198=
XR_001743546.2:n.622_624delinsCAG
XR_001743547.2:n.622_624delinsCAG
XR_001743548.2:n.622_624delinsCAG
XR_001743549.2:n.622_624delinsCAG
XR_002956292.1:n.622_624delinsCAG
NM_183050.4:c.592_594delinsCAG MANE Select	NP_898871.1:p.Gln198=
NR_134945.2:n.615_617delinsCAG
NM_000056.5:c.592_594delinsCAG	NP_000047.1:p.Gln198=