Canonical Allele Identifier: CA1640937795

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1772747003

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168979_80168980del , CM000668.2:g.80168979_80168980del	GRCh38
NC_000006.11:g.80878696_80878697del , CM000668.1:g.80878696_80878697del	GRCh37
NC_000006.10:g.80935415_80935416del	NCBI36
NG_009775.1:g.67353_67354del
NG_009775.2:g.67353_67354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.582_583del MANE Select	ENSP00000318351.5:p.Tyr195SerfsTer6
ENST00000320393.8:c.582_583del	ENSP00000318351.5:p.Tyr195SerfsTer6
ENST00000356489.9:c.582_583del	ENSP00000348880.5:p.Tyr195SerfsTer6
ENST00000369760.8:c.582_583del	ENSP00000358775.4:p.Tyr195SerfsTer6
NM_000056.3:c.582_583del	NP_000047.1:p.Tyr195SerfsTer6
NM_183050.2:c.582_583del	NP_898871.1:p.Tyr195SerfsTer6
XM_005248756.3:c.582_583del	XP_005248813.1:p.Tyr195SerfsTer6
XM_006715542.2:c.372_373del	XP_006715605.1:p.Tyr125SerfsTer6
XM_011536023.1:c.582_583del	XP_011534325.1:p.Tyr195SerfsTer6
XM_011536024.1:c.582_583del	XP_011534326.1:p.Tyr195SerfsTer6
XM_011536025.1:c.582_583del	XP_011534327.1:p.Tyr195SerfsTer6
XM_011536026.1:c.372_373del	XP_011534328.1:p.Tyr125SerfsTer6
XM_011536027.1:c.582_583del	XP_011534329.1:p.Tyr195SerfsTer6
NM_000056.4:c.582_583del	NP_000047.1:p.Tyr195SerfsTer6
NM_001318975.1:c.372_373del	NP_001305904.1:p.Tyr125SerfsTer6
NM_183050.3:c.582_583del	NP_898871.1:p.Tyr195SerfsTer6
NR_134945.1:n.666_667del
XM_005248756.5:c.582_583del	XP_005248813.1:p.Tyr195SerfsTer6
XM_011536023.3:c.582_583del	XP_011534325.1:p.Tyr195SerfsTer6
XM_011536024.3:c.582_583del	XP_011534326.1:p.Tyr195SerfsTer6
XM_011536025.3:c.582_583del	XP_011534327.1:p.Tyr195SerfsTer6
XR_001743546.2:n.612_613del
XR_001743547.2:n.612_613del
XR_001743548.2:n.612_613del
XR_001743549.2:n.612_613del
XR_002956292.1:n.612_613del
NM_183050.4:c.582_583del MANE Select	NP_898871.1:p.Tyr195SerfsTer6
NR_134945.2:n.605_606del
NM_000056.5:c.582_583del	NP_000047.1:p.Tyr195SerfsTer6