Canonical Allele Identifier: CA070992
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088975_112088977dup , CM000673.2:g.112088975_112088977dup GRCh38
NC_000011.9:g.111959699_111959701dup , CM000673.1:g.111959699_111959701dup GRCh37
NC_000011.8:g.111464909_111464911dup NCBI36
NG_012337.2:g.7129_7131dup
NG_033145.1:g.2823_2825dup
NG_012337.3:g.7129_7131dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.278_280dup ENSP00000432946.2:p.Tyr93_Ser94insTyr
ENST00000534010.2:c.278_280dup ENSP00000433202.2:p.Tyr93_Ser94insTyr
ENST00000375549.8:c.278_280dup MANE Select ENSP00000364699.3:p.Tyr93_Ser94insTyr
ENST00000528021.6:c.278_280dup ENSP00000432465.1:p.Tyr93_Ser94insTyr
ENST00000640554.1:c.*350_*352dup ENSP00000491141.1:n.*350_*352dup
ENST00000375549.7:c.278_280dup ENSP00000364699.3:p.Tyr93_Ser94insTyr
ENST00000525291.5:c.161_163dup ENSP00000436669.1:p.Tyr54_Ser55insTyr
ENST00000525987.5:n.283_285dup
ENST00000526592.5:c.278_280dup ENSP00000432005.1:p.Tyr93_Ser94insTyr
ENST00000528021.5:c.278_280dup ENSP00000432465.1:p.Tyr93_Ser94insTyr
ENST00000528048.5:c.169+1002_169+1004dup ENSP00000436217.1:n.169+1002_169+1004dup
ENST00000528182.5:c.278_280dup ENSP00000435475.1:p.Tyr93_Ser94insTyr
ENST00000530923.5:c.268_270dup
ENST00000531744.5:c.278_280dup ENSP00000456957.1:p.Tyr93_Ser94insTyr
ENST00000532699.1:c.278_280dup ENSP00000456434.1:p.Tyr93_Ser94insTyr
ENST00000534010.1:c.109_111dup
ENST00000614349.4:c.278_280dup ENSP00000480666.1:p.Tyr93_Ser94insTyr
NM_001276503.1:c.169+1002_169+1004dup NP_001263432.1:n.169+1002_169+1004dup
NM_001276504.1:c.161_163dup NP_001263433.1:p.Tyr54_Ser55insTyr
NM_001276506.1:c.278_280dup NP_001263435.1:p.Tyr93_Ser94insTyr
NM_003002.3:c.278_280dup NP_002993.1:p.Tyr93_Ser94insTyr
NR_077060.1:n.362_364dup
NM_003002.4:c.278_280dup MANE Select NP_002993.1:p.Tyr93_Ser94insTyr
NM_001276503.2:c.169+1002_169+1004dup NP_001263432.1:n.169+1002_169+1004dup
NM_001276504.2:c.161_163dup NP_001263433.1:p.Tyr54_Ser55insTyr
NM_001276506.2:c.278_280dup NP_001263435.1:p.Tyr93_Ser94insTyr
NR_077060.2:n.313_315dup