Canonical Allele Identifier: CA10582869
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 239461
ClinVar RCV Id: RCV000233424 RCV002229659
dbSNP Id: rs878854590
gnomAD v4: 11-112088868-TG-T
MyVariant Identifiers: chr11:g.111959594del (hg19) chr11:g.112088870del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088870del , CM000673.2:g.112088870del GRCh38
NC_000011.9:g.111959594del , CM000673.1:g.111959594del GRCh37
NC_000011.8:g.111464804del NCBI36
NG_012337.2:g.7024del
NG_033145.1:g.2930del
NG_012337.3:g.7024del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.173del ENSP00000432946.2:p.Gly58AlafsTer28
ENST00000534010.2:c.173del ENSP00000433202.2:p.Gly58AlafsTer28
ENST00000375549.8:c.173del MANE Select ENSP00000364699.3:p.Gly58AlafsTer28
ENST00000528021.6:c.173del ENSP00000432465.1:p.Gly58AlafsTer28
ENST00000640554.1:c.*245del ENSP00000491141.1:n.*245del
ENST00000375549.7:c.173del ENSP00000364699.3:p.Gly58AlafsTer28
ENST00000525291.5:c.56del ENSP00000436669.1:p.Gly19AlafsTer28
ENST00000525987.5:n.178del
ENST00000526592.5:c.173del ENSP00000432005.1:p.Gly58AlafsTer28
ENST00000528021.5:c.173del ENSP00000432465.1:p.Gly58AlafsTer28
ENST00000528048.5:c.169+897del ENSP00000436217.1:n.169+897del
ENST00000528182.5:c.173del ENSP00000435475.1:p.Gly58AlafsTer28
ENST00000530923.5:c.163del
ENST00000531744.5:c.173del ENSP00000456957.1:p.Gly58AlafsTer28
ENST00000532699.1:c.173del ENSP00000456434.1:p.Gly58AlafsTer28
ENST00000534010.1:c.4del
ENST00000614349.4:c.173del ENSP00000480666.1:p.Gly58AlafsTer28
NM_001276503.1:c.169+897del NP_001263432.1:n.169+897del
NM_001276504.1:c.56del NP_001263433.1:p.Gly19AlafsTer28
NM_001276506.1:c.173del NP_001263435.1:p.Gly58AlafsTer28
NM_003002.3:c.173del NP_002993.1:p.Gly58AlafsTer28
NR_077060.1:n.257del
NM_003002.4:c.173del MANE Select NP_002993.1:p.Gly58AlafsTer28
NM_001276503.2:c.169+897del NP_001263432.1:n.169+897del
NM_001276504.2:c.56del NP_001263433.1:p.Gly19AlafsTer28
NM_001276506.2:c.173del NP_001263435.1:p.Gly58AlafsTer28
NR_077060.2:n.208del
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