Canonical Allele Identifier: CA2679496968

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106769-CTTCCTGGCGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106770_80106780del , CM000668.2:g.80106770_80106780del	GRCh38
NC_000006.11:g.80816487_80816497del , CM000668.1:g.80816487_80816497del	GRCh37
NC_000006.10:g.80873206_80873216del	NCBI36
NG_009775.1:g.5144_5154del
NG_009775.2:g.5144_5154del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.77_87del MANE Select	ENSP00000318351.5:p.Leu26ArgfsTer?
ENST00000320393.8:c.77_87del	ENSP00000318351.5:p.Leu26ArgfsTer?
ENST00000356489.9:c.77_87del	ENSP00000348880.5:p.Leu26ArgfsTer?
ENST00000369760.8:c.77_87del	ENSP00000358775.4:p.Leu26ArgfsTer?
NM_000056.3:c.77_87del	NP_000047.1:p.Leu26ArgfsTer?
NM_183050.2:c.77_87del	NP_898871.1:p.Leu26ArgfsTer?
XM_005248756.3:c.77_87del	XP_005248813.1:p.Leu26ArgfsTer?
XM_006715542.2:c.-15+87_-15+97del	XP_006715605.1:n.-15+87_-15+97del
XM_011536023.1:c.77_87del	XP_011534325.1:p.Leu26ArgfsTer?
XM_011536024.1:c.77_87del	XP_011534326.1:p.Leu26ArgfsTer?
XM_011536025.1:c.77_87del	XP_011534327.1:p.Leu26ArgfsTer?
XM_011536027.1:c.77_87del	XP_011534329.1:p.Leu26ArgfsTer?
NM_000056.4:c.77_87del	NP_000047.1:p.Leu26ArgfsTer?
NM_001318975.1:c.-15+87_-15+97del	NP_001305904.1:n.-15+87_-15+97del
NM_183050.3:c.77_87del	NP_898871.1:p.Leu26ArgfsTer?
NR_134945.1:n.161_171del
XM_005248756.5:c.77_87del	XP_005248813.1:p.Leu26ArgfsTer?
XM_011536023.3:c.77_87del	XP_011534325.1:p.Leu26ArgfsTer?
XM_011536024.3:c.77_87del	XP_011534326.1:p.Leu26ArgfsTer?
XM_011536025.3:c.77_87del	XP_011534327.1:p.Leu26ArgfsTer?
XR_001743546.2:n.107_117del
XR_001743547.2:n.107_117del
XR_001743548.2:n.107_117del
XR_001743549.2:n.107_117del
XR_002956292.1:n.107_117del
NM_183050.4:c.77_87del MANE Select	NP_898871.1:p.Leu26ArgfsTer?
NR_134945.2:n.100_110del
NM_000056.5:c.77_87del	NP_000047.1:p.Leu26ArgfsTer?