Canonical Allele Identifier: CA890972327

Gene: SDHB

Linked Data

• dbSNP Id: rs1485954142
• gnomAD v3: 1-17028318-A-AGCT
• gnomAD v4: 1-17028318-A-AGCT
• MyVariant Identifiers: chr1:g.17354813_17354814insGCT (hg19) ; chr1:g.17028318_17028319insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028323_17028325dup , CM000663.2:g.17028323_17028325dup	GRCh38
NC_000001.10:g.17354818_17354820dup , CM000663.1:g.17354818_17354820dup	GRCh37
NC_000001.9:g.17227405_17227407dup	NCBI36
NG_012340.1:g.30850_30852dup , LRG_316:g.30850_30852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+279_252+281dup	ENSP00000481376.2:n.252+279_252+281dup
ENST00000491274.6:c.381+279_381+281dup	ENSP00000480482.2:n.381+279_381+281dup
ENST00000375499.8:c.423+279_423+281dup MANE Select	ENSP00000364649.3:n.423+279_423+281dup
ENST00000375499.7:c.423+279_423+281dup	ENSP00000364649.3:n.423+279_423+281dup
ENST00000463045.2:c.252+279_252+281dup	ENSP00000481376.1:n.252+279_252+281dup
ENST00000475506.1:n.340+279_340+281dup
ENST00000485515.5:n.357+333_357+335dup
ENST00000491274.5:c.381+279_381+281dup	ENSP00000480482.1:n.381+279_381+281dup
NM_003000.2:c.423+279_423+281dup , LRG_316t1:c.423+279_423+281dup	NP_002991.2:n.423+279_423+281dup
NM_003000.3:c.423+279_423+281dup MANE Select	NP_002991.2:n.423+279_423+281dup