Canonical Allele Identifier: CA658821857

Gene: SDHD

Linked Data

• ClinVar Variation Id: 562465
• ClinVar RCV Id: RCV000681950
• dbSNP Id: rs1566702771
• MyVariant Identifiers: chr11:g.111965625del (hg19) ; chr11:g.112094901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094901del , CM000673.2:g.112094901del	GRCh38
NC_000011.9:g.111965625del , CM000673.1:g.111965625del	GRCh37
NC_000011.8:g.111470835del	NCBI36
NG_012337.2:g.13055del
NG_012337.3:g.13055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*150del	ENSP00000432946.2:n.*150del
ENST00000534010.2:c.314+5890del	ENSP00000433202.2:n.314+5890del
ENST00000375549.8:c.411del MANE Select	ENSP00000364699.3:p.Leu139PhefsTer?
ENST00000528021.6:c.314+5890del	ENSP00000432465.1:n.314+5890del
ENST00000375549.7:c.411del	ENSP00000364699.3:p.Leu139PhefsTer?
ENST00000525291.5:c.294del	ENSP00000436669.1:p.Leu100PhefsTer?
ENST00000525987.5:n.319+5890del
ENST00000526592.5:c.*109del	ENSP00000432005.1:n.*109del
ENST00000528021.5:c.314+5890del	ENSP00000432465.1:n.314+5890del
ENST00000528048.5:c.*8del	ENSP00000436217.1:n.*8del
ENST00000528182.5:c.*8del	ENSP00000435475.1:n.*8del
ENST00000530923.5:c.455del
ENST00000531744.5:c.314+5890del	ENSP00000456957.1:n.314+5890del
ENST00000532699.1:c.314+5890del	ENSP00000456434.1:n.314+5890del
ENST00000534010.1:c.145+5890del
NM_001276503.1:c.*8del	NP_001263432.1:n.*8del
NM_001276504.1:c.294del	NP_001263433.1:p.Leu100PhefsTer?
NM_001276506.1:c.*109del	NP_001263435.1:n.*109del
NM_003002.3:c.411del	NP_002993.1:p.Leu139PhefsTer?
NR_077060.1:n.549del
NM_003002.4:c.411del MANE Select	NP_002993.1:p.Leu139PhefsTer?
NM_001276503.2:c.*8del	NP_001263432.1:n.*8del
NM_001276504.2:c.294del	NP_001263433.1:p.Leu100PhefsTer?
NM_001276506.2:c.*109del	NP_001263435.1:n.*109del
NR_077060.2:n.500del