Canonical Allele Identifier: CA2580612563
Gene: SDHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2573281
ClinVar RCV Id: RCV003316970

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161328425_161328426del , CM000663.2:g.161328425_161328426del GRCh38
NC_000001.10:g.161298215_161298216del , CM000663.1:g.161298215_161298216del GRCh37
NC_000001.9:g.159564839_159564840del NCBI36
NG_012767.1:g.19050_19051del , LRG_317:g.19050_19051del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470743.5:c.*108_*109del ENSP00000482902.2:n.*108_*109del
ENST00000367975.7:c.107_108del MANE Select ENSP00000356953.3:p.Glu36GlyfsTer8
ENST00000342751.8:c.107_108del ENSP00000356952.3:p.Glu36GlyfsTer8
ENST00000367975.6:c.107_108del ENSP00000356953.2:p.Glu36GlyfsTer8
ENST00000392169.6:c.21-12169_21-12168del ENSP00000376009.2:n.21-12169_21-12168del
ENST00000432287.6:c.77+4755_77+4756del ENSP00000390558.2:n.77+4755_77+4756del
ENST00000470743.4:c.205_206del
ENST00000504963.5:c.107_108del ENSP00000423929.1:p.Glu36GlyfsTer8
ENST00000513009.5:c.77+4755_77+4756del ENSP00000423260.1:n.77+4755_77+4756del
ENST00000515731.1:n.581_582del
NM_001035511.1:c.107_108del NP_001030588.1:p.Glu36GlyfsTer8
NM_001035512.1:c.77+4755_77+4756del NP_001030589.1:n.77+4755_77+4756del
NM_001035513.1:c.21-12169_21-12168del NP_001030590.1:n.21-12169_21-12168del
NM_001278172.1:c.77+4755_77+4756del NP_001265101.1:n.77+4755_77+4756del
NM_003001.3:c.107_108del , LRG_317t1:c.107_108del NP_002992.1:p.Glu36GlyfsTer8
NR_103459.1:n.137_138del
NM_001035511.2:c.107_108del NP_001030588.1:p.Glu36GlyfsTer8
NM_001035512.2:c.77+4755_77+4756del NP_001030589.1:n.77+4755_77+4756del
NM_001035513.2:c.21-12169_21-12168del NP_001030590.1:n.21-12169_21-12168del
NM_001278172.2:c.77+4755_77+4756del NP_001265101.1:n.77+4755_77+4756del
NM_003001.5:c.107_108del MANE Select NP_002992.1:p.Glu36GlyfsTer8
NR_103459.2:n.132_133del