Canonical Allele Identifier: CA915947741

Gene: SDHD

Linked Data

• ClinVar Variation Id: 806737
• ClinVar RCV Id: RCV000994725
• dbSNP Id: rs1592777182

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086919_112086920del , CM000673.2:g.112086919_112086920del	GRCh38
NC_000011.9:g.111957643_111957644del , CM000673.1:g.111957643_111957644del	GRCh37
NC_000011.8:g.111462853_111462854del	NCBI36
NG_012337.2:g.5073_5074del
NG_033145.1:g.4882_4883del
NG_012337.3:g.5073_5074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.12_13del	ENSP00000432946.2:p.Trp5GlufsTer?
ENST00000534010.2:c.12_13del	ENSP00000433202.2:p.Trp5GlufsTer?
ENST00000375549.8:c.12_13del MANE Select	ENSP00000364699.3:p.Trp5GlufsTer?
ENST00000528021.6:c.12_13del	ENSP00000432465.1:p.Trp5GlufsTer?
ENST00000640554.1:c.12_13del	ENSP00000491141.1:p.Trp5GlufsTer?
ENST00000375549.7:c.12_13del	ENSP00000364699.3:p.Trp5GlufsTer?
ENST00000525291.5:c.12_13del	ENSP00000436669.1:p.Trp5GlufsTer24
ENST00000525987.5:n.17_18del
ENST00000526592.5:c.12_13del	ENSP00000432005.1:p.Trp5GlufsTer?
ENST00000528021.5:c.12_13del	ENSP00000432465.1:p.Trp5GlufsTer?
ENST00000528048.5:c.12_13del	ENSP00000436217.1:p.Trp5GlufsTer?
ENST00000528182.5:c.12_13del	ENSP00000435475.1:p.Trp5GlufsTer?
ENST00000531744.5:c.12_13del	ENSP00000456957.1:p.Trp5GlufsTer?
ENST00000532699.1:c.12_13del	ENSP00000456434.1:p.Trp5GlufsTer?
ENST00000614349.4:c.12_13del	ENSP00000480666.1:p.Trp5GlufsTer?
NM_001276503.1:c.12_13del	NP_001263432.1:p.Trp5GlufsTer?
NM_001276504.1:c.12_13del	NP_001263433.1:p.Trp5GlufsTer24
NM_001276506.1:c.12_13del	NP_001263435.1:p.Trp5GlufsTer?
NM_003002.3:c.12_13del	NP_002993.1:p.Trp5GlufsTer?
NR_077060.1:n.96_97del
NM_003002.4:c.12_13del MANE Select	NP_002993.1:p.Trp5GlufsTer?
NM_001276503.2:c.12_13del	NP_001263432.1:p.Trp5GlufsTer?
NM_001276504.2:c.12_13del	NP_001263433.1:p.Trp5GlufsTer24
NM_001276506.2:c.12_13del	NP_001263435.1:p.Trp5GlufsTer?
NR_077060.2:n.47_48del