Canonical Allele Identifier: CA2580615067

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2567229
• ClinVar RCV Id: RCV003311139

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087873del , CM000673.2:g.112087873del	GRCh38
NC_000011.9:g.111958597del , CM000673.1:g.111958597del	GRCh37
NC_000011.8:g.111463807del	NCBI36
NG_012337.2:g.6027del
NG_033145.1:g.3926del
NG_012337.3:g.6027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.69del	ENSP00000432946.2:p.Pro24GlnfsTer?
ENST00000534010.2:c.69del	ENSP00000433202.2:p.Pro24GlnfsTer?
ENST00000375549.8:c.69del MANE Select	ENSP00000364699.3:p.Pro24GlnfsTer?
ENST00000528021.6:c.69del	ENSP00000432465.1:p.Pro24GlnfsTer?
ENST00000640554.1:c.69del	ENSP00000491141.1:p.Pro24GlnfsTer?
ENST00000375549.7:c.69del	ENSP00000364699.3:p.Pro24GlnfsTer?
ENST00000525291.5:c.52+914del	ENSP00000436669.1:n.52+914del
ENST00000525987.5:n.74del
ENST00000526592.5:c.69del	ENSP00000432005.1:p.Pro24GlnfsTer?
ENST00000528021.5:c.69del	ENSP00000432465.1:p.Pro24GlnfsTer?
ENST00000528048.5:c.69del	ENSP00000436217.1:p.Pro24GlnfsTer?
ENST00000528182.5:c.69del	ENSP00000435475.1:p.Pro24GlnfsTer?
ENST00000530923.5:c.59del
ENST00000531744.5:c.69del	ENSP00000456957.1:p.Pro24GlnfsTer?
ENST00000532699.1:c.69del	ENSP00000456434.1:p.Pro24GlnfsTer?
ENST00000614349.4:c.69del	ENSP00000480666.1:p.Pro24GlnfsTer?
NM_001276503.1:c.69del	NP_001263432.1:p.Pro24GlnfsTer?
NM_001276504.1:c.52+914del	NP_001263433.1:n.52+914del
NM_001276506.1:c.69del	NP_001263435.1:p.Pro24GlnfsTer?
NM_003002.3:c.69del	NP_002993.1:p.Pro24GlnfsTer?
NR_077060.1:n.153del
NM_003002.4:c.69del MANE Select	NP_002993.1:p.Pro24GlnfsTer?
NM_001276503.2:c.69del	NP_001263432.1:p.Pro24GlnfsTer?
NM_001276504.2:c.52+914del	NP_001263433.1:n.52+914del
NM_001276506.2:c.69del	NP_001263435.1:p.Pro24GlnfsTer?
NR_077060.2:n.104del