Canonical Allele Identifier: CA2697558953

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2683431
• ClinVar RCV Id: RCV003480251

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088883_112088886dup , CM000673.2:g.112088883_112088886dup	GRCh38
NC_000011.9:g.111959607_111959610dup , CM000673.1:g.111959607_111959610dup	GRCh37
NC_000011.8:g.111464817_111464820dup	NCBI36
NG_012337.2:g.7037_7040dup
NG_033145.1:g.2913_2916dup
NG_012337.3:g.7037_7040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.186_189dup	ENSP00000432946.2:p.Leu64IlefsTer6
ENST00000534010.2:c.186_189dup	ENSP00000433202.2:p.Leu64IlefsTer6
ENST00000375549.8:c.186_189dup MANE Select	ENSP00000364699.3:p.Leu64IlefsTer6
ENST00000528021.6:c.186_189dup	ENSP00000432465.1:p.Leu64IlefsTer6
ENST00000640554.1:c.*258_*261dup	ENSP00000491141.1:n.*258_*261dup
ENST00000375549.7:c.186_189dup	ENSP00000364699.3:p.Leu64IlefsTer6
ENST00000525291.5:c.69_72dup	ENSP00000436669.1:p.Leu25IlefsTer6
ENST00000525987.5:n.191_194dup
ENST00000526592.5:c.186_189dup	ENSP00000432005.1:p.Leu64IlefsTer6
ENST00000528021.5:c.186_189dup	ENSP00000432465.1:p.Leu64IlefsTer6
ENST00000528048.5:c.169+910_169+913dup	ENSP00000436217.1:n.169+910_169+913dup
ENST00000528182.5:c.186_189dup	ENSP00000435475.1:p.Leu64IlefsTer6
ENST00000530923.5:c.176_179dup
ENST00000531744.5:c.186_189dup	ENSP00000456957.1:p.Leu64IlefsTer6
ENST00000532699.1:c.186_189dup	ENSP00000456434.1:p.Leu64IlefsTer6
ENST00000534010.1:c.17_20dup
ENST00000614349.4:c.186_189dup	ENSP00000480666.1:p.Leu64IlefsTer6
NM_001276503.1:c.169+910_169+913dup	NP_001263432.1:n.169+910_169+913dup
NM_001276504.1:c.69_72dup	NP_001263433.1:p.Leu25IlefsTer6
NM_001276506.1:c.186_189dup	NP_001263435.1:p.Leu64IlefsTer6
NM_003002.3:c.186_189dup	NP_002993.1:p.Leu64IlefsTer6
NR_077060.1:n.270_273dup
NM_003002.4:c.186_189dup MANE Select	NP_002993.1:p.Leu64IlefsTer6
NM_001276503.2:c.169+910_169+913dup	NP_001263432.1:n.169+910_169+913dup
NM_001276504.2:c.69_72dup	NP_001263433.1:p.Leu25IlefsTer6
NM_001276506.2:c.186_189dup	NP_001263435.1:p.Leu64IlefsTer6
NR_077060.2:n.221_224dup