Canonical Allele Identifier: CA016628

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6905
• ClinVar RCV Id: RCV000007314 ; RCV002433446
• dbSNP Id: rs121908983
• MyVariant Identifiers: chr11:g.111959698_111959700del (hg19) ; chr11:g.112088974_112088976del (hg38)
• PubMed: PMID:11391796

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088975_112088977del , CM000673.2:g.112088975_112088977del	GRCh38
NC_000011.9:g.111959699_111959701del , CM000673.1:g.111959699_111959701del	GRCh37
NC_000011.8:g.111464909_111464911del	NCBI36
NG_012337.2:g.7129_7131del
NG_033145.1:g.2823_2825del
NG_012337.3:g.7129_7131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.278_280del	ENSP00000432946.2:p.Tyr93del
ENST00000534010.2:c.278_280del	ENSP00000433202.2:p.Tyr93del
ENST00000375549.8:c.278_280del MANE Select	ENSP00000364699.3:p.Tyr93del
ENST00000528021.6:c.278_280del	ENSP00000432465.1:p.Tyr93del
ENST00000640554.1:c.*350_*352del	ENSP00000491141.1:n.*350_*352del
ENST00000375549.7:c.278_280del	ENSP00000364699.3:p.Tyr93del
ENST00000525291.5:c.161_163del	ENSP00000436669.1:p.Tyr54del
ENST00000525987.5:n.283_285del
ENST00000526592.5:c.278_280del	ENSP00000432005.1:p.Tyr93del
ENST00000528021.5:c.278_280del	ENSP00000432465.1:p.Tyr93del
ENST00000528048.5:c.169+1002_169+1004del	ENSP00000436217.1:n.169+1002_169+1004del
ENST00000528182.5:c.278_280del	ENSP00000435475.1:p.Tyr93del
ENST00000530923.5:c.268_270del
ENST00000531744.5:c.278_280del	ENSP00000456957.1:p.Tyr93del
ENST00000532699.1:c.278_280del	ENSP00000456434.1:p.Tyr93del
ENST00000534010.1:c.109_111del
ENST00000614349.4:c.278_280del	ENSP00000480666.1:p.Tyr93del
NM_001276503.1:c.169+1002_169+1004del	NP_001263432.1:n.169+1002_169+1004del
NM_001276504.1:c.161_163del	NP_001263433.1:p.Tyr54del
NM_001276506.1:c.278_280del	NP_001263435.1:p.Tyr93del
NM_003002.3:c.278_280del	NP_002993.1:p.Tyr93del
NR_077060.1:n.362_364del
NM_003002.4:c.278_280del MANE Select	NP_002993.1:p.Tyr93del
NM_001276503.2:c.169+1002_169+1004del	NP_001263432.1:n.169+1002_169+1004del
NM_001276504.2:c.161_163del	NP_001263433.1:p.Tyr54del
NM_001276506.2:c.278_280del	NP_001263435.1:p.Tyr93del
NR_077060.2:n.313_315del