Canonical Allele Identifier: CA2679499376

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343807-ATATAGGTAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343811_80343820del , CM000668.2:g.80343811_80343820del	GRCh38
NC_000006.11:g.81053528_81053537del , CM000668.1:g.81053528_81053537del	GRCh37
NC_000006.10:g.81110247_81110256del	NCBI36
NG_009775.1:g.242185_242194del
NG_009775.2:g.242185_242194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*7_*16del MANE Select	ENSP00000318351.5:n.*7_*16del
ENST00000320393.8:c.*7_*16del	ENSP00000318351.5:n.*7_*16del
ENST00000356489.9:c.*7_*8+8del
ENST00000491328.1:n.241_242+8del
NM_000056.3:c.*7_*8+8del
NM_183050.2:c.*7_*16del	NP_898871.1:n.*7_*16del
NM_000056.4:c.*7_*8+8del
NM_001318975.1:c.*7_*16del	NP_001305904.1:n.*7_*16del
NM_183050.3:c.*7_*16del	NP_898871.1:n.*7_*16del
NR_134945.1:n.1364_1373del
XM_011536024.3:c.*192_*201del	XP_011534326.1:n.*192_*201del
XR_001743546.2:n.1068+70590_1068+70599del
XR_001743547.2:n.1068+70590_1068+70599del
XR_001743548.2:n.1068+70590_1068+70599del
XR_001743549.2:n.1068+70590_1068+70599del
XR_002956292.1:n.1068+70590_1068+70599del
NM_183050.4:c.*7_*16del MANE Select	NP_898871.1:n.*7_*16del
NR_134945.2:n.1303_1312del
NM_000056.5:c.*7_*8+8del