Canonical Allele Identifier: CA645509540

Gene: SDHD

Linked Data

• ClinVar Variation Id: 438439
• ClinVar RCV Id: RCV000505276
• dbSNP Id: rs1555187601
• MyVariant Identifiers: chr11:g.111965595del (hg19) ; chr11:g.112094871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094871del , CM000673.2:g.112094871del	GRCh38
NC_000011.9:g.111965595del , CM000673.1:g.111965595del	GRCh37
NC_000011.8:g.111470805del	NCBI36
NG_012337.2:g.13025del
NG_012337.3:g.13025del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*120del	ENSP00000432946.2:n.*120del
ENST00000534010.2:c.314+5860del	ENSP00000433202.2:n.314+5860del
ENST00000375549.8:c.381del MANE Select	ENSP00000364699.3:p.Leu128PhefsTer7
ENST00000528021.6:c.314+5860del	ENSP00000432465.1:n.314+5860del
ENST00000375549.7:c.381del	ENSP00000364699.3:p.Leu128PhefsTer7
ENST00000525291.5:c.264del	ENSP00000436669.1:p.Leu89PhefsTer7
ENST00000525987.5:n.319+5860del
ENST00000526592.5:c.*79del	ENSP00000432005.1:n.*79del
ENST00000528021.5:c.314+5860del	ENSP00000432465.1:n.314+5860del
ENST00000528048.5:c.236del	ENSP00000436217.1:p.Gly79AlafsTer?
ENST00000528182.5:c.374del	ENSP00000435475.1:p.Gly125AlafsTer?
ENST00000530923.5:c.425del
ENST00000531744.5:c.314+5860del	ENSP00000456957.1:n.314+5860del
ENST00000532699.1:c.314+5860del	ENSP00000456434.1:n.314+5860del
ENST00000534010.1:c.145+5860del
NM_001276503.1:c.236del	NP_001263432.1:p.Gly79AlafsTer?
NM_001276504.1:c.264del	NP_001263433.1:p.Leu89PhefsTer7
NM_001276506.1:c.*79del	NP_001263435.1:n.*79del
NM_003002.3:c.381del	NP_002993.1:p.Leu128PhefsTer7
NR_077060.1:n.519del
NM_003002.4:c.381del MANE Select	NP_002993.1:p.Leu128PhefsTer7
NM_001276503.2:c.236del	NP_001263432.1:p.Gly79AlafsTer?
NM_001276504.2:c.264del	NP_001263433.1:p.Leu89PhefsTer7
NM_001276506.2:c.*79del	NP_001263435.1:n.*79del
NR_077060.2:n.470del