Canonical Allele Identifier: CA891842628

Gene: SDHD

Linked Data

• ClinVar Variation Id: 582531
• ClinVar RCV Id: RCV002533749
• dbSNP Id: rs1566694825
• MyVariant Identifiers: chr11:g.111959709_111959711del (hg19) ; chr11:g.112088985_112088987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088985_112088987del , CM000673.2:g.112088985_112088987del	GRCh38
NC_000011.9:g.111959709_111959711del , CM000673.1:g.111959709_111959711del	GRCh37
NC_000011.8:g.111464919_111464921del	NCBI36
NG_012337.2:g.7139_7141del
NG_033145.1:g.2814_2816del
NG_012337.3:g.7139_7141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.288_290del	ENSP00000432946.2:p.Ala97del
ENST00000534010.2:c.288_290del	ENSP00000433202.2:p.Ala97del
ENST00000375549.8:c.288_290del MANE Select	ENSP00000364699.3:p.Ala97del
ENST00000528021.6:c.288_290del	ENSP00000432465.1:p.Ala97del
ENST00000640554.1:c.*360_*362del	ENSP00000491141.1:n.*360_*362del
ENST00000375549.7:c.288_290del	ENSP00000364699.3:p.Ala97del
ENST00000525291.5:c.171_173del	ENSP00000436669.1:p.Ala58del
ENST00000525987.5:n.293_295del
ENST00000526592.5:c.288_290del	ENSP00000432005.1:p.Ala97del
ENST00000528021.5:c.288_290del	ENSP00000432465.1:p.Ala97del
ENST00000528048.5:c.169+1012_169+1014del	ENSP00000436217.1:n.169+1012_169+1014del
ENST00000528182.5:c.288_290del	ENSP00000435475.1:p.Ala97del
ENST00000530923.5:c.278_280del
ENST00000531744.5:c.288_290del	ENSP00000456957.1:p.Ala97del
ENST00000532699.1:c.288_290del	ENSP00000456434.1:p.Ala97del
ENST00000534010.1:c.119_121del
ENST00000614349.4:c.288_290del	ENSP00000480666.1:p.Ala97del
NM_001276503.1:c.169+1012_169+1014del	NP_001263432.1:n.169+1012_169+1014del
NM_001276504.1:c.171_173del	NP_001263433.1:p.Ala58del
NM_001276506.1:c.288_290del	NP_001263435.1:p.Ala97del
NM_003002.3:c.288_290del	NP_002993.1:p.Ala97del
NR_077060.1:n.372_374del
NM_003002.4:c.288_290del MANE Select	NP_002993.1:p.Ala97del
NM_001276503.2:c.169+1012_169+1014del	NP_001263432.1:n.169+1012_169+1014del
NM_001276504.2:c.171_173del	NP_001263433.1:p.Ala58del
NM_001276506.2:c.288_290del	NP_001263435.1:p.Ala97del
NR_077060.2:n.323_325del