Canonical Allele Identifier: CA338275015

Gene: SDHB

Linked Data

• dbSNP Id: rs1389798038
• gnomAD v4: 1-17028711-G-GC
• MyVariant Identifiers: chr1:g.17355206_17355207insC (hg19) ; chr1:g.17028711_17028712insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028711_17028712insC , CM000663.2:g.17028711_17028712insC	GRCh38
NC_000001.10:g.17355206_17355207insC , CM000663.1:g.17355206_17355207insC	GRCh37
NC_000001.9:g.17227793_17227794insC	NCBI36
NG_012340.1:g.30459_30460insG , LRG_316:g.30459_30460insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.140_141insG	ENSP00000481376.2:p.Asn47LysfsTer15
ENST00000491274.6:c.269_270insG	ENSP00000480482.2:p.Asn90LysfsTer15
ENST00000375499.8:c.311_312insG MANE Select	ENSP00000364649.3:p.Asn104LysfsTer15
ENST00000375499.7:c.311_312insG	ENSP00000364649.3:p.Asn104LysfsTer15
ENST00000463045.2:c.140_141insG	ENSP00000481376.1:p.Asn47LysfsTer15
ENST00000475506.1:n.228_229insG
ENST00000485515.5:n.299_300insG
ENST00000491274.5:c.269_270insG	ENSP00000480482.1:p.Asn90LysfsTer15
NM_003000.2:c.311_312insG , LRG_316t1:c.311_312insG	NP_002991.2:p.Asn104LysfsTer15
NM_003000.3:c.311_312insG MANE Select	NP_002991.2:p.Asn104LysfsTer15