Canonical Allele Identifier: CA2580615068

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1794440
• ClinVar RCV Id: RCV002428739

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088963_112088964dup , CM000673.2:g.112088963_112088964dup	GRCh38
NC_000011.9:g.111959687_111959688dup , CM000673.1:g.111959687_111959688dup	GRCh37
NC_000011.8:g.111464897_111464898dup	NCBI36
NG_012337.2:g.7117_7118dup
NG_033145.1:g.2837_2838dup
NG_012337.3:g.7117_7118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.266_267dup	ENSP00000432946.2:p.Ala90LeufsTer21
ENST00000534010.2:c.266_267dup	ENSP00000433202.2:p.Ala90LeufsTer?
ENST00000375549.8:c.266_267dup MANE Select	ENSP00000364699.3:p.Ala90LeufsTer?
ENST00000528021.6:c.266_267dup	ENSP00000432465.1:p.Ala90LeufsTer?
ENST00000640554.1:c.*338_*339dup	ENSP00000491141.1:n.*338_*339dup
ENST00000375549.7:c.266_267dup	ENSP00000364699.3:p.Ala90LeufsTer?
ENST00000525291.5:c.149_150dup	ENSP00000436669.1:p.Ala51LeufsTer?
ENST00000525987.5:n.271_272dup
ENST00000526592.5:c.266_267dup	ENSP00000432005.1:p.Ala90LeufsTer?
ENST00000528021.5:c.266_267dup	ENSP00000432465.1:p.Ala90LeufsTer?
ENST00000528048.5:c.169+990_169+991dup	ENSP00000436217.1:n.169+990_169+991dup
ENST00000528182.5:c.266_267dup	ENSP00000435475.1:p.Ala90LeufsTer22
ENST00000530923.5:c.256_257dup
ENST00000531744.5:c.266_267dup	ENSP00000456957.1:p.Ala90LeufsTer22
ENST00000532699.1:c.266_267dup	ENSP00000456434.1:p.Ala90LeufsTer22
ENST00000534010.1:c.97_98dup
ENST00000614349.4:c.266_267dup	ENSP00000480666.1:p.Ala90LeufsTer?
NM_001276503.1:c.169+990_169+991dup	NP_001263432.1:n.169+990_169+991dup
NM_001276504.1:c.149_150dup	NP_001263433.1:p.Ala51LeufsTer?
NM_001276506.1:c.266_267dup	NP_001263435.1:p.Ala90LeufsTer?
NM_003002.3:c.266_267dup	NP_002993.1:p.Ala90LeufsTer?
NR_077060.1:n.350_351dup
NM_003002.4:c.266_267dup MANE Select	NP_002993.1:p.Ala90LeufsTer?
NM_001276503.2:c.169+990_169+991dup	NP_001263432.1:n.169+990_169+991dup
NM_001276504.2:c.149_150dup	NP_001263433.1:p.Ala51LeufsTer?
NM_001276506.2:c.266_267dup	NP_001263435.1:p.Ala90LeufsTer?
NR_077060.2:n.301_302dup