Canonical Allele Identifier: CA1090993136

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1772896222
• gnomAD v3: 6-80171206-TATC-T
• gnomAD v4: 6-80171206-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171208_80171210del , CM000668.2:g.80171208_80171210del	GRCh38
NC_000006.11:g.80880925_80880927del , CM000668.1:g.80880925_80880927del	GRCh37
NC_000006.10:g.80937644_80937646del	NCBI36
NG_009775.1:g.69582_69584del
NG_009775.2:g.69582_69584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.634-74_634-72del MANE Select	ENSP00000318351.5:n.634-74_634-72del
ENST00000320393.8:c.634-74_634-72del	ENSP00000318351.5:n.634-74_634-72del
ENST00000356489.9:c.634-74_634-72del	ENSP00000348880.5:n.634-74_634-72del
NM_000056.3:c.634-74_634-72del	NP_000047.1:n.634-74_634-72del
NM_183050.2:c.634-74_634-72del	NP_898871.1:n.634-74_634-72del
XM_005248756.3:c.634-74_634-72del	XP_005248813.1:n.634-74_634-72del
XM_006715542.2:c.424-74_424-72del	XP_006715605.1:n.424-74_424-72del
XM_011536023.1:c.634-74_634-72del	XP_011534325.1:n.634-74_634-72del
XM_011536024.1:c.634-74_634-72del	XP_011534326.1:n.634-74_634-72del
XM_011536025.1:c.634-74_634-72del	XP_011534327.1:n.634-74_634-72del
XM_011536026.1:c.424-74_424-72del	XP_011534328.1:n.424-74_424-72del
NM_000056.4:c.634-74_634-72del	NP_000047.1:n.634-74_634-72del
NM_001318975.1:c.424-74_424-72del	NP_001305904.1:n.424-74_424-72del
NM_183050.3:c.634-74_634-72del	NP_898871.1:n.634-74_634-72del
NR_134945.1:n.812-74_812-72del
XM_005248756.5:c.634-74_634-72del	XP_005248813.1:n.634-74_634-72del
XM_011536023.3:c.634-74_634-72del	XP_011534325.1:n.634-74_634-72del
XM_011536024.3:c.634-74_634-72del	XP_011534326.1:n.634-74_634-72del
XM_011536025.3:c.634-74_634-72del	XP_011534327.1:n.634-74_634-72del
XR_001743546.2:n.664-74_664-72del
XR_001743547.2:n.664-74_664-72del
XR_001743548.2:n.664-74_664-72del
XR_001743549.2:n.664-74_664-72del
XR_002956292.1:n.664-74_664-72del
NM_183050.4:c.634-74_634-72del MANE Select	NP_898871.1:n.634-74_634-72del
NR_134945.2:n.751-74_751-72del
NM_000056.5:c.634-74_634-72del	NP_000047.1:n.634-74_634-72del