Canonical Allele Identifier: CA521039241

Gene: SDHB

Linked Data

• dbSNP Id: rs1385267350
• gnomAD v2: 1-17354739-AATT-A
• gnomAD v3: 1-17028244-AATT-A
• gnomAD v4: 1-17028244-AATT-A
• MyVariant Identifiers: chr1:g.17354740_17354742del (hg19) ; chr1:g.17028245_17028247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028248_17028250del , CM000663.2:g.17028248_17028250del	GRCh38
NC_000001.10:g.17354743_17354745del , CM000663.1:g.17354743_17354745del	GRCh37
NC_000001.9:g.17227330_17227332del	NCBI36
NG_012340.1:g.30924_30926del , LRG_316:g.30924_30926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+353_252+355del	ENSP00000481376.2:n.252+353_252+355del
ENST00000491274.6:c.381+353_381+355del	ENSP00000480482.2:n.381+353_381+355del
ENST00000375499.8:c.423+353_423+355del MANE Select	ENSP00000364649.3:n.423+353_423+355del
ENST00000375499.7:c.423+353_423+355del	ENSP00000364649.3:n.423+353_423+355del
ENST00000463045.2:c.252+353_252+355del	ENSP00000481376.1:n.252+353_252+355del
ENST00000475506.1:n.340+353_340+355del
ENST00000485515.5:n.358-382_358-380del
ENST00000491274.5:c.381+353_381+355del	ENSP00000480482.1:n.381+353_381+355del
NM_003000.2:c.423+353_423+355del , LRG_316t1:c.423+353_423+355del	NP_002991.2:n.423+353_423+355del
NM_003000.3:c.423+353_423+355del MANE Select	NP_002991.2:n.423+353_423+355del