Canonical Allele Identifier: CA2695206777

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168993_80168994del , CM000668.2:g.80168993_80168994del	GRCh38
NC_000006.11:g.80878710_80878711del , CM000668.1:g.80878710_80878711del	GRCh37
NC_000006.10:g.80935429_80935430del	NCBI36
NG_009775.1:g.67367_67368del
NG_009775.2:g.67367_67368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.596_597del MANE Select	ENSP00000318351.5:p.Ser199ThrfsTer2
ENST00000320393.8:c.596_597del	ENSP00000318351.5:p.Ser199ThrfsTer2
ENST00000356489.9:c.596_597del	ENSP00000348880.5:p.Ser199ThrfsTer2
ENST00000369760.8:c.596_597del	ENSP00000358775.4:p.Ser199ThrfsTer2
NM_000056.3:c.596_597del	NP_000047.1:p.Ser199ThrfsTer2
NM_183050.2:c.596_597del	NP_898871.1:p.Ser199ThrfsTer2
XM_005248756.3:c.596_597del	XP_005248813.1:p.Ser199ThrfsTer2
XM_006715542.2:c.386_387del	XP_006715605.1:p.Ser129ThrfsTer2
XM_011536023.1:c.596_597del	XP_011534325.1:p.Ser199ThrfsTer2
XM_011536024.1:c.596_597del	XP_011534326.1:p.Ser199ThrfsTer2
XM_011536025.1:c.596_597del	XP_011534327.1:p.Ser199ThrfsTer2
XM_011536026.1:c.386_387del	XP_011534328.1:p.Ser129ThrfsTer2
XM_011536027.1:c.596_597del	XP_011534329.1:p.Ser199ThrfsTer2
NM_000056.4:c.596_597del	NP_000047.1:p.Ser199ThrfsTer2
NM_001318975.1:c.386_387del	NP_001305904.1:p.Ser129ThrfsTer2
NM_183050.3:c.596_597del	NP_898871.1:p.Ser199ThrfsTer2
NR_134945.1:n.680_681del
XM_005248756.5:c.596_597del	XP_005248813.1:p.Ser199ThrfsTer2
XM_011536023.3:c.596_597del	XP_011534325.1:p.Ser199ThrfsTer2
XM_011536024.3:c.596_597del	XP_011534326.1:p.Ser199ThrfsTer2
XM_011536025.3:c.596_597del	XP_011534327.1:p.Ser199ThrfsTer2
XR_001743546.2:n.626_627del
XR_001743547.2:n.626_627del
XR_001743548.2:n.626_627del
XR_001743549.2:n.626_627del
XR_002956292.1:n.626_627del
NM_183050.4:c.596_597del MANE Select	NP_898871.1:p.Ser199ThrfsTer2
NR_134945.2:n.619_620del
NM_000056.5:c.596_597del	NP_000047.1:p.Ser199ThrfsTer2