Canonical Allele Identifier: CA913190185

Gene: SDHD

Linked Data

• ClinVar Variation Id: 618362
• ClinVar RCV Id: RCV000756633 ; RCV002234117 ; RCV004027133
• dbSNP Id: rs1566690018

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086920_112086921del , CM000673.2:g.112086920_112086921del	GRCh38
NC_000011.9:g.111957644_111957645del , CM000673.1:g.111957644_111957645del	GRCh37
NC_000011.8:g.111462854_111462855del	NCBI36
NG_012337.2:g.5074_5075del
NG_033145.1:g.4878_4879del
NG_012337.3:g.5074_5075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.13_14del	ENSP00000432946.2:p.Trp5GlufsTer?
ENST00000534010.2:c.13_14del	ENSP00000433202.2:p.Trp5GlufsTer?
ENST00000375549.8:c.13_14del MANE Select	ENSP00000364699.3:p.Trp5GlufsTer?
ENST00000528021.6:c.13_14del	ENSP00000432465.1:p.Trp5GlufsTer?
ENST00000640554.1:c.13_14del	ENSP00000491141.1:p.Trp5GlufsTer?
ENST00000375549.7:c.13_14del	ENSP00000364699.3:p.Trp5GlufsTer?
ENST00000525291.5:c.13_14del	ENSP00000436669.1:p.Trp5GlufsTer24
ENST00000525987.5:n.18_19del
ENST00000526592.5:c.13_14del	ENSP00000432005.1:p.Trp5GlufsTer?
ENST00000528021.5:c.13_14del	ENSP00000432465.1:p.Trp5GlufsTer?
ENST00000528048.5:c.13_14del	ENSP00000436217.1:p.Trp5GlufsTer?
ENST00000528182.5:c.13_14del	ENSP00000435475.1:p.Trp5GlufsTer?
ENST00000530923.5:c.3_4del
ENST00000531744.5:c.13_14del	ENSP00000456957.1:p.Trp5GlufsTer?
ENST00000532699.1:c.13_14del	ENSP00000456434.1:p.Trp5GlufsTer?
ENST00000614349.4:c.13_14del	ENSP00000480666.1:p.Trp5GlufsTer?
NM_001276503.1:c.13_14del	NP_001263432.1:p.Trp5GlufsTer?
NM_001276504.1:c.13_14del	NP_001263433.1:p.Trp5GlufsTer24
NM_001276506.1:c.13_14del	NP_001263435.1:p.Trp5GlufsTer?
NM_003002.3:c.13_14del	NP_002993.1:p.Trp5GlufsTer?
NR_077060.1:n.97_98del
NM_003002.4:c.13_14del MANE Select	NP_002993.1:p.Trp5GlufsTer?
NM_001276503.2:c.13_14del	NP_001263432.1:p.Trp5GlufsTer?
NM_001276504.2:c.13_14del	NP_001263433.1:p.Trp5GlufsTer24
NM_001276506.2:c.13_14del	NP_001263435.1:p.Trp5GlufsTer?
NR_077060.2:n.48_49del