Canonical Allele Identifier: CA1139662330

Gene: SDHD

Linked Data

• ClinVar Variation Id: 929233
• ClinVar RCV Id: RCV001194404
• dbSNP Id: rs1865690107

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088964_112088978del , CM000673.2:g.112088964_112088978del	GRCh38
NC_000011.9:g.111959688_111959702del , CM000673.1:g.111959688_111959702del	GRCh37
NC_000011.8:g.111464898_111464912del	NCBI36
NG_012337.2:g.7118_7132del
NG_033145.1:g.2823_2837del
NG_012337.3:g.7118_7132del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.267_281del	ENSP00000432946.2:p.Ala90_Ser94del
ENST00000534010.2:c.267_281del	ENSP00000433202.2:p.Ala90_Ser94del
ENST00000375549.8:c.267_281del MANE Select	ENSP00000364699.3:p.Ala90_Ser94del
ENST00000528021.6:c.267_281del	ENSP00000432465.1:p.Ala90_Ser94del
ENST00000640554.1:c.*339_*353del	ENSP00000491141.1:n.*339_*353del
ENST00000375549.7:c.267_281del	ENSP00000364699.3:p.Ala90_Ser94del
ENST00000525291.5:c.150_164del	ENSP00000436669.1:p.Ala51_Ser55del
ENST00000525987.5:n.272_286del
ENST00000526592.5:c.267_281del	ENSP00000432005.1:p.Ala90_Ser94del
ENST00000528021.5:c.267_281del	ENSP00000432465.1:p.Ala90_Ser94del
ENST00000528048.5:c.169+991_169+1005del	ENSP00000436217.1:n.169+991_169+1005del
ENST00000528182.5:c.267_281del	ENSP00000435475.1:p.Ala90_Ser94del
ENST00000530923.5:c.257_271del
ENST00000531744.5:c.267_281del	ENSP00000456957.1:p.Ala90_Ser94del
ENST00000532699.1:c.267_281del	ENSP00000456434.1:p.Ala90_Ser94del
ENST00000534010.1:c.98_112del
ENST00000614349.4:c.267_281del	ENSP00000480666.1:p.Ala90_Ser94del
NM_001276503.1:c.169+991_169+1005del	NP_001263432.1:n.169+991_169+1005del
NM_001276504.1:c.150_164del	NP_001263433.1:p.Ala51_Ser55del
NM_001276506.1:c.267_281del	NP_001263435.1:p.Ala90_Ser94del
NM_003002.3:c.267_281del	NP_002993.1:p.Ala90_Ser94del
NR_077060.1:n.351_365del
NM_003002.4:c.267_281del MANE Select	NP_002993.1:p.Ala90_Ser94del
NM_001276503.2:c.169+991_169+1005del	NP_001263432.1:n.169+991_169+1005del
NM_001276504.2:c.150_164del	NP_001263433.1:p.Ala51_Ser55del
NM_001276506.2:c.267_281del	NP_001263435.1:p.Ala90_Ser94del
NR_077060.2:n.302_316del