Canonical Allele Identifier: CA2695199021
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 2637899
ClinVar RCV Id: RCV003405196

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088894_112088895delinsAA , CM000673.2:g.112088894_112088895delinsAA GRCh38
NC_000011.9:g.111959618_111959619delinsAA , CM000673.1:g.111959618_111959619delinsAA GRCh37
NC_000011.8:g.111464828_111464829delinsAA NCBI36
NG_012337.2:g.7048_7049delinsAA
NG_033145.1:g.2904_2905delinsTT
NG_012337.3:g.7048_7049delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.197_198delinsAA ENSP00000432946.2:p.Trp66Ter
ENST00000534010.2:c.197_198delinsAA ENSP00000433202.2:p.Trp66Ter
ENST00000375549.8:c.197_198delinsAA MANE Select ENSP00000364699.3:p.Trp66Ter
ENST00000528021.6:c.197_198delinsAA ENSP00000432465.1:p.Trp66Ter
ENST00000640554.1:c.*269_*270delinsAA ENSP00000491141.1:n.*269_*270delinsAA
ENST00000375549.7:c.197_198delinsAA ENSP00000364699.3:p.Trp66Ter
ENST00000525291.5:c.80_81delinsAA ENSP00000436669.1:p.Trp27Ter
ENST00000525987.5:n.202_203delinsAA
ENST00000526592.5:c.197_198delinsAA ENSP00000432005.1:p.Trp66Ter
ENST00000528021.5:c.197_198delinsAA ENSP00000432465.1:p.Trp66Ter
ENST00000528048.5:c.169+921_169+922delinsAA ENSP00000436217.1:n.169+921_169+922delins...
ENST00000528182.5:c.197_198delinsAA ENSP00000435475.1:p.Trp66Ter
ENST00000530923.5:c.187_188delinsAA
ENST00000531744.5:c.197_198delinsAA ENSP00000456957.1:p.Trp66Ter
ENST00000532699.1:c.197_198delinsAA ENSP00000456434.1:p.Trp66Ter
ENST00000534010.1:c.28_29delinsAA
ENST00000614349.4:c.197_198delinsAA ENSP00000480666.1:p.Trp66Ter
NM_001276503.1:c.169+921_169+922delinsAA NP_001263432.1:n.169+921_169+922delinsAA
NM_001276504.1:c.80_81delinsAA NP_001263433.1:p.Trp27Ter
NM_001276506.1:c.197_198delinsAA NP_001263435.1:p.Trp66Ter
NM_003002.3:c.197_198delinsAA NP_002993.1:p.Trp66Ter
NR_077060.1:n.281_282delinsAA
NM_003002.4:c.197_198delinsAA MANE Select NP_002993.1:p.Trp66Ter
NM_001276503.2:c.169+921_169+922delinsAA NP_001263432.1:n.169+921_169+922delinsAA
NM_001276504.2:c.80_81delinsAA NP_001263433.1:p.Trp27Ter
NM_001276506.2:c.197_198delinsAA NP_001263435.1:p.Trp66Ter
NR_077060.2:n.232_233delinsAA