Canonical Allele Identifier: CA2679499381

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343817-GTATGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343818_80343822del , CM000668.2:g.80343818_80343822del	GRCh38
NC_000006.11:g.81053535_81053539del , CM000668.1:g.81053535_81053539del	GRCh37
NC_000006.10:g.81110254_81110258del	NCBI36
NG_009775.1:g.242192_242196del
NG_009775.2:g.242192_242196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*14_*18del MANE Select	ENSP00000318351.5:n.*14_*18del
ENST00000320393.8:c.*14_*18del	ENSP00000318351.5:n.*14_*18del
ENST00000356489.9:c.*8+6_*8+10del	ENSP00000348880.5:n.*8+6_*8+10del
ENST00000491328.1:n.242+6_242+10del
NM_000056.3:c.*8+6_*8+10del	NP_000047.1:n.*8+6_*8+10del
NM_183050.2:c.*14_*18del	NP_898871.1:n.*14_*18del
NM_000056.4:c.*8+6_*8+10del	NP_000047.1:n.*8+6_*8+10del
NM_001318975.1:c.*14_*18del	NP_001305904.1:n.*14_*18del
NM_183050.3:c.*14_*18del	NP_898871.1:n.*14_*18del
NR_134945.1:n.1371_1375del
XM_011536024.3:c.*199_*203del	XP_011534326.1:n.*199_*203del
XR_001743546.2:n.1068+70597_1068+70601del
XR_001743547.2:n.1068+70597_1068+70601del
XR_001743548.2:n.1068+70597_1068+70601del
XR_001743549.2:n.1068+70597_1068+70601del
XR_002956292.1:n.1068+70597_1068+70601del
NM_183050.4:c.*14_*18del MANE Select	NP_898871.1:n.*14_*18del
NR_134945.2:n.1310_1314del
NM_000056.5:c.*8+6_*8+10del	NP_000047.1:n.*8+6_*8+10del