Canonical Allele Identifier: CA279936

Gene: SDHD

Linked Data

• ClinVar Variation Id: 219161
• ClinVar RCV Id: RCV000203535
• dbSNP Id: rs864321644
• MyVariant Identifiers: chr11:g.111965600del (hg19) ; chr11:g.112094876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094876del , CM000673.2:g.112094876del	GRCh38
NC_000011.9:g.111965600del , CM000673.1:g.111965600del	GRCh37
NC_000011.8:g.111470810del	NCBI36
NG_012337.2:g.13030del
NG_012337.3:g.13030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*125del	ENSP00000432946.2:n.*125del
ENST00000534010.2:c.314+5865del	ENSP00000433202.2:n.314+5865del
ENST00000375549.8:c.386del MANE Select	ENSP00000364699.3:p.Leu129TrpfsTer6
ENST00000528021.6:c.314+5865del	ENSP00000432465.1:n.314+5865del
ENST00000375549.7:c.386del	ENSP00000364699.3:p.Leu129TrpfsTer6
ENST00000525291.5:c.269del	ENSP00000436669.1:p.Leu90TrpfsTer6
ENST00000525987.5:n.319+5865del
ENST00000526592.5:c.*84del	ENSP00000432005.1:n.*84del
ENST00000528021.5:c.314+5865del	ENSP00000432465.1:n.314+5865del
ENST00000528048.5:c.241del	ENSP00000436217.1:p.Trp81GlyfsTer?
ENST00000528182.5:c.379del	ENSP00000435475.1:p.Trp127GlyfsTer?
ENST00000530923.5:c.430del
ENST00000531744.5:c.314+5865del	ENSP00000456957.1:n.314+5865del
ENST00000532699.1:c.314+5865del	ENSP00000456434.1:n.314+5865del
ENST00000534010.1:c.145+5865del
NM_001276503.1:c.241del	NP_001263432.1:p.Trp81GlyfsTer?
NM_001276504.1:c.269del	NP_001263433.1:p.Leu90TrpfsTer6
NM_001276506.1:c.*84del	NP_001263435.1:n.*84del
NM_003002.3:c.386del	NP_002993.1:p.Leu129TrpfsTer6
NR_077060.1:n.524del
NM_003002.4:c.386del MANE Select	NP_002993.1:p.Leu129TrpfsTer6
NM_001276503.2:c.241del	NP_001263432.1:p.Trp81GlyfsTer?
NM_001276504.2:c.269del	NP_001263433.1:p.Leu90TrpfsTer6
NM_001276506.2:c.*84del	NP_001263435.1:n.*84del
NR_077060.2:n.475del