Canonical Allele Identifier: CA2695215321
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088931_112088940del , CM000673.2:g.112088931_112088940del GRCh38
NC_000011.9:g.111959655_111959664del , CM000673.1:g.111959655_111959664del GRCh37
NC_000011.8:g.111464865_111464874del NCBI36
NG_012337.2:g.7085_7094del
NG_033145.1:g.2860_2869del
NG_012337.3:g.7085_7094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.234_243del ENSP00000432946.2:p.Pro81IlefsTer2
ENST00000534010.2:c.234_243del ENSP00000433202.2:p.Pro81IlefsTer2
ENST00000375549.8:c.234_243del MANE Select ENSP00000364699.3:p.Pro81IlefsTer2
ENST00000528021.6:c.234_243del ENSP00000432465.1:p.Pro81IlefsTer2
ENST00000640554.1:c.*306_*315del ENSP00000491141.1:n.*306_*315del
ENST00000375549.7:c.234_243del ENSP00000364699.3:p.Pro81IlefsTer2
ENST00000525291.5:c.117_126del ENSP00000436669.1:p.Pro42IlefsTer2
ENST00000525987.5:n.239_248del
ENST00000526592.5:c.234_243del ENSP00000432005.1:p.Pro81IlefsTer2
ENST00000528021.5:c.234_243del ENSP00000432465.1:p.Pro81IlefsTer2
ENST00000528048.5:c.169+958_169+967del ENSP00000436217.1:n.169+958_169+967del
ENST00000528182.5:c.234_243del ENSP00000435475.1:p.Pro81IlefsTer2
ENST00000530923.5:c.224_233del
ENST00000531744.5:c.234_243del ENSP00000456957.1:p.Pro81IlefsTer2
ENST00000532699.1:c.234_243del ENSP00000456434.1:p.Pro81IlefsTer2
ENST00000534010.1:c.65_74del
ENST00000614349.4:c.234_243del ENSP00000480666.1:p.Pro81IlefsTer2
NM_001276503.1:c.169+958_169+967del NP_001263432.1:n.169+958_169+967del
NM_001276504.1:c.117_126del NP_001263433.1:p.Pro42IlefsTer2
NM_001276506.1:c.234_243del NP_001263435.1:p.Pro81IlefsTer2
NM_003002.3:c.234_243del NP_002993.1:p.Pro81IlefsTer2
NR_077060.1:n.318_327del
NM_003002.4:c.234_243del MANE Select NP_002993.1:p.Pro81IlefsTer2
NM_001276503.2:c.169+958_169+967del NP_001263432.1:n.169+958_169+967del
NM_001276504.2:c.117_126del NP_001263433.1:p.Pro42IlefsTer2
NM_001276506.2:c.234_243del NP_001263435.1:p.Pro81IlefsTer2
NR_077060.2:n.269_278del