Canonical Allele Identifier: CA142283970

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1043379807
• gnomAD v2: 6-80878040-GGGGAGAGGGAAGAA-G
• gnomAD v3: 6-80168323-GGGGAGAGGGAAGAA-G
• gnomAD v4: 6-80168323-GGGGAGAGGGAAGAA-G
• MyVariant Identifiers: chr6:g.80878041_80878054del (hg19) ; chr6:g.80168324_80168337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168333_80168346del , CM000668.2:g.80168333_80168346del	GRCh38
NC_000006.11:g.80878050_80878063del , CM000668.1:g.80878050_80878063del	GRCh37
NC_000006.10:g.80934769_80934782del	NCBI36
NG_009775.1:g.66707_66720del
NG_009775.2:g.66707_66720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.477+522_478-529del MANE Select	ENSP00000318351.5:n.477+522_478-529del
ENST00000320393.8:c.477+522_478-529del	ENSP00000318351.5:n.477+522_478-529del
ENST00000356489.9:c.477+522_478-529del	ENSP00000348880.5:n.477+522_478-529del
ENST00000369760.8:c.477+522_478-529del	ENSP00000358775.4:n.477+522_478-529del
NM_000056.3:c.477+522_478-529del	NP_000047.1:n.477+522_478-529del
NM_183050.2:c.477+522_478-529del	NP_898871.1:n.477+522_478-529del
XM_005248756.3:c.477+522_478-529del	XP_005248813.1:n.477+522_478-529del
XM_006715542.2:c.267+522_268-529del	XP_006715605.1:n.267+522_268-529del
XM_011536023.1:c.477+522_478-529del	XP_011534325.1:n.477+522_478-529del
XM_011536024.1:c.477+522_478-529del	XP_011534326.1:n.477+522_478-529del
XM_011536025.1:c.477+522_478-529del	XP_011534327.1:n.477+522_478-529del
XM_011536026.1:c.267+522_268-529del	XP_011534328.1:n.267+522_268-529del
XM_011536027.1:c.477+522_478-529del	XP_011534329.1:n.477+522_478-529del
NM_000056.4:c.477+522_478-529del	NP_000047.1:n.477+522_478-529del
NM_001318975.1:c.267+522_268-529del	NP_001305904.1:n.267+522_268-529del
NM_183050.3:c.477+522_478-529del	NP_898871.1:n.477+522_478-529del
NR_134945.1:n.561+522_562-529del
XM_005248756.5:c.477+522_478-529del	XP_005248813.1:n.477+522_478-529del
XM_011536023.3:c.477+522_478-529del	XP_011534325.1:n.477+522_478-529del
XM_011536024.3:c.477+522_478-529del	XP_011534326.1:n.477+522_478-529del
XM_011536025.3:c.477+522_478-529del	XP_011534327.1:n.477+522_478-529del
XR_001743546.2:n.507+522_508-529del
XR_001743547.2:n.507+522_508-529del
XR_001743548.2:n.507+522_508-529del
XR_001743549.2:n.507+522_508-529del
XR_002956292.1:n.507+522_508-529del
NM_183050.4:c.477+522_478-529del MANE Select	NP_898871.1:n.477+522_478-529del
NR_134945.2:n.500+522_501-529del
NM_000056.5:c.477+522_478-529del	NP_000047.1:n.477+522_478-529del