Canonical Allele Identifier: CA2825001995
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 3223039
ClinVar RCV Id: RCV004508394

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088986_112088999del , CM000673.2:g.112088986_112088999del GRCh38
NC_000011.9:g.111959710_111959723del , CM000673.1:g.111959710_111959723del GRCh37
NC_000011.8:g.111464920_111464933del NCBI36
NG_012337.2:g.7140_7153del
NG_033145.1:g.2802_2815del
NG_012337.3:g.7140_7153del

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.289_302del ENSP00000432946.2:p.Ala97SerfsTer18
ENST00000534010.2:c.289_302del ENSP00000433202.2:p.Ala97SerfsTer9
ENST00000375549.8:c.289_302del MANE Select ENSP00000364699.3:p.Ala97SerfsTer12
ENST00000528021.6:c.289_302del ENSP00000432465.1:p.Ala97SerfsTer21
ENST00000640554.1:c.*361_*374del ENSP00000491141.1:n.*361_*374del
ENST00000375549.7:c.289_302del ENSP00000364699.3:p.Ala97SerfsTer12
ENST00000525291.5:c.172_185del ENSP00000436669.1:p.Ala58SerfsTer12
ENST00000525987.5:n.294_307del
ENST00000526592.5:c.289_302del ENSP00000432005.1:p.Ala97SerfsTer?
ENST00000528021.5:c.289_302del ENSP00000432465.1:p.Ala97SerfsTer21
ENST00000528048.5:c.169+1013_169+1026del ENSP00000436217.1:n.169+1013_169+1026del
ENST00000528182.5:c.289_302del ENSP00000435475.1:p.Ala97SerfsTer?
ENST00000530923.5:c.279_292del
ENST00000531744.5:c.289_302del ENSP00000456957.1:p.Ala97SerfsTer?
ENST00000532699.1:c.289_302del ENSP00000456434.1:p.Ala97SerfsTer?
ENST00000534010.1:c.120_133del
ENST00000614349.4:c.289_302del ENSP00000480666.1:p.Ala97SerfsTer?
NM_001276503.1:c.169+1013_169+1026del NP_001263432.1:n.169+1013_169+1026del
NM_001276504.1:c.172_185del NP_001263433.1:p.Ala58SerfsTer12
NM_001276506.1:c.289_302del NP_001263435.1:p.Ala97SerfsTer?
NM_003002.3:c.289_302del NP_002993.1:p.Ala97SerfsTer12
NR_077060.1:n.373_386del
NM_003002.4:c.289_302del MANE Select NP_002993.1:p.Ala97SerfsTer12
NM_001276503.2:c.169+1013_169+1026del NP_001263432.1:n.169+1013_169+1026del
NM_001276504.2:c.172_185del NP_001263433.1:p.Ala58SerfsTer12
NM_001276506.2:c.289_302del NP_001263435.1:p.Ala97SerfsTer?
NR_077060.2:n.324_337del