Canonical Allele Identifier: CA568398578

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1554189617
• gnomAD v2: 6-80878123-A-AAGGAAAG
• gnomAD v3: 6-80168406-A-AAGGAAAG
• gnomAD v4: 6-80168406-A-AAGGAAAG
• MyVariant Identifiers: chr6:g.80878127delinsAAAGAGGG (hg19) ; chr6:g.80878123_80878124insAGGAAAG (hg19) ; chr6:g.80168410delinsAAAGAGGG (hg38) ; chr6:g.80168406_80168407insAGGAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168409_80168410insAAAGAGG , CM000668.2:g.80168409_80168410insAAAGAGG	GRCh38
NC_000006.11:g.80878126_80878127insAAAGAGG , CM000668.1:g.80878126_80878127insAAAGAGG	GRCh37
NC_000006.10:g.80934845_80934846insAAAGAGG	NCBI36
NG_009775.1:g.66783_66784insAAAGAGG
NG_009775.2:g.66783_66784insAAAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-466_478-465insAAAGAGG MANE Select	ENSP00000318351.5:n.478-466_478-465insAAAGAGG
ENST00000320393.8:c.478-466_478-465insAAAGAGG	ENSP00000318351.5:n.478-466_478-465insAAAGAGG
ENST00000356489.9:c.478-466_478-465insAAAGAGG	ENSP00000348880.5:n.478-466_478-465insAAAGAGG
ENST00000369760.8:c.478-466_478-465insAAAGAGG	ENSP00000358775.4:n.478-466_478-465insAAAGAGG
NM_000056.3:c.478-466_478-465insAAAGAGG	NP_000047.1:n.478-466_478-465insAAAGAGG
NM_183050.2:c.478-466_478-465insAAAGAGG	NP_898871.1:n.478-466_478-465insAAAGAGG
XM_005248756.3:c.478-466_478-465insAAAGAGG	XP_005248813.1:n.478-466_478-465insAAAGAGG
XM_006715542.2:c.268-466_268-465insAAAGAGG	XP_006715605.1:n.268-466_268-465insAAAGAGG
XM_011536023.1:c.478-466_478-465insAAAGAGG	XP_011534325.1:n.478-466_478-465insAAAGAGG
XM_011536024.1:c.478-466_478-465insAAAGAGG	XP_011534326.1:n.478-466_478-465insAAAGAGG
XM_011536025.1:c.478-466_478-465insAAAGAGG	XP_011534327.1:n.478-466_478-465insAAAGAGG
XM_011536026.1:c.268-466_268-465insAAAGAGG	XP_011534328.1:n.268-466_268-465insAAAGAGG
XM_011536027.1:c.478-466_478-465insAAAGAGG	XP_011534329.1:n.478-466_478-465insAAAGAGG
NM_000056.4:c.478-466_478-465insAAAGAGG	NP_000047.1:n.478-466_478-465insAAAGAGG
NM_001318975.1:c.268-466_268-465insAAAGAGG	NP_001305904.1:n.268-466_268-465insAAAGAGG
NM_183050.3:c.478-466_478-465insAAAGAGG	NP_898871.1:n.478-466_478-465insAAAGAGG
NR_134945.1:n.562-466_562-465insAAAGAGG
XM_005248756.5:c.478-466_478-465insAAAGAGG	XP_005248813.1:n.478-466_478-465insAAAGAGG
XM_011536023.3:c.478-466_478-465insAAAGAGG	XP_011534325.1:n.478-466_478-465insAAAGAGG
XM_011536024.3:c.478-466_478-465insAAAGAGG	XP_011534326.1:n.478-466_478-465insAAAGAGG
XM_011536025.3:c.478-466_478-465insAAAGAGG	XP_011534327.1:n.478-466_478-465insAAAGAGG
XR_001743546.2:n.508-466_508-465insAAAGAGG
XR_001743547.2:n.508-466_508-465insAAAGAGG
XR_001743548.2:n.508-466_508-465insAAAGAGG
XR_001743549.2:n.508-466_508-465insAAAGAGG
XR_002956292.1:n.508-466_508-465insAAAGAGG
NM_183050.4:c.478-466_478-465insAAAGAGG MANE Select	NP_898871.1:n.478-466_478-465insAAAGAGG
NR_134945.2:n.501-466_501-465insAAAGAGG
NM_000056.5:c.478-466_478-465insAAAGAGG	NP_000047.1:n.478-466_478-465insAAAGAGG