Canonical Allele Identifier: CA228555224

Gene: SDHD

Linked Data

• dbSNP Id: rs575947347
• gnomAD v2: 11-111965121-C-CAATA
• gnomAD v3: 11-112094397-C-CAATA
• gnomAD v4: 11-112094397-C-CAATA
• MyVariant Identifiers: chr11:g.111965133_111965134insAATA (hg19) ; chr11:g.111965121_111965122insAATA (hg19) ; chr11:g.112094409_112094410insAATA (hg38) ; chr11:g.112094397_112094398insAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094422_112094425dup , CM000673.2:g.112094422_112094425dup	GRCh38
NC_000011.9:g.111965146_111965149dup , CM000673.1:g.111965146_111965149dup	GRCh37
NC_000011.8:g.111470356_111470359dup	NCBI36
NG_012337.2:g.12576_12579dup
NG_012337.3:g.12576_12579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*54-383_*54-380dup	ENSP00000432946.2:n.*54-383_*54-380dup
ENST00000534010.2:c.314+5411_314+5414dup	ENSP00000433202.2:n.314+5411_314+5414dup
ENST00000375549.8:c.315-383_315-380dup MANE Select	ENSP00000364699.3:n.315-383_315-380dup
ENST00000528021.6:c.314+5411_314+5414dup	ENSP00000432465.1:n.314+5411_314+5414dup
ENST00000375549.7:c.315-383_315-380dup	ENSP00000364699.3:n.315-383_315-380dup
ENST00000525291.5:c.198-383_198-380dup	ENSP00000436669.1:n.198-383_198-380dup
ENST00000525987.5:n.319+5411_319+5414dup
ENST00000526592.5:c.*13-383_*13-380dup	ENSP00000432005.1:n.*13-383_*13-380dup
ENST00000528021.5:c.314+5411_314+5414dup	ENSP00000432465.1:n.314+5411_314+5414dup
ENST00000528048.5:c.170-383_170-380dup	ENSP00000436217.1:n.170-383_170-380dup
ENST00000528182.5:c.308-383_308-380dup	ENSP00000435475.1:n.308-383_308-380dup
ENST00000530923.5:c.359-383_359-380dup
ENST00000531744.5:c.314+5411_314+5414dup	ENSP00000456957.1:n.314+5411_314+5414dup
ENST00000532699.1:c.314+5411_314+5414dup	ENSP00000456434.1:n.314+5411_314+5414dup
ENST00000534010.1:c.145+5411_145+5414dup
NM_001276503.1:c.170-383_170-380dup	NP_001263432.1:n.170-383_170-380dup
NM_001276504.1:c.198-383_198-380dup	NP_001263433.1:n.198-383_198-380dup
NM_001276506.1:c.*13-383_*13-380dup	NP_001263435.1:n.*13-383_*13-380dup
NM_003002.3:c.315-383_315-380dup	NP_002993.1:n.315-383_315-380dup
NR_077060.1:n.453-383_453-380dup
NM_003002.4:c.315-383_315-380dup MANE Select	NP_002993.1:n.315-383_315-380dup
NM_001276503.2:c.170-383_170-380dup	NP_001263432.1:n.170-383_170-380dup
NM_001276504.2:c.198-383_198-380dup	NP_001263433.1:n.198-383_198-380dup
NM_001276506.2:c.*13-383_*13-380dup	NP_001263435.1:n.*13-383_*13-380dup
NR_077060.2:n.404-383_404-380dup