Canonical Allele Identifier: CA2695215320
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088903_112088915del , CM000673.2:g.112088903_112088915del GRCh38
NC_000011.9:g.111959627_111959639del , CM000673.1:g.111959627_111959639del GRCh37
NC_000011.8:g.111464837_111464849del NCBI36
NG_012337.2:g.7057_7069del
NG_033145.1:g.2885_2897del
NG_012337.3:g.7057_7069del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.206_218del ENSP00000432946.2:p.Glu69ValfsTer13
ENST00000534010.2:c.206_218del ENSP00000433202.2:p.Glu69ValfsTer13
ENST00000375549.8:c.206_218del MANE Select ENSP00000364699.3:p.Glu69ValfsTer13
ENST00000528021.6:c.206_218del ENSP00000432465.1:p.Glu69ValfsTer13
ENST00000640554.1:c.*278_*290del ENSP00000491141.1:n.*278_*290del
ENST00000375549.7:c.206_218del ENSP00000364699.3:p.Glu69ValfsTer13
ENST00000525291.5:c.89_101del ENSP00000436669.1:p.Glu30ValfsTer13
ENST00000525987.5:n.211_223del
ENST00000526592.5:c.206_218del ENSP00000432005.1:p.Glu69ValfsTer13
ENST00000528021.5:c.206_218del ENSP00000432465.1:p.Glu69ValfsTer13
ENST00000528048.5:c.169+930_169+942del ENSP00000436217.1:n.169+930_169+942del
ENST00000528182.5:c.206_218del ENSP00000435475.1:p.Glu69ValfsTer13
ENST00000530923.5:c.196_208del
ENST00000531744.5:c.206_218del ENSP00000456957.1:p.Glu69ValfsTer13
ENST00000532699.1:c.206_218del ENSP00000456434.1:p.Glu69ValfsTer13
ENST00000534010.1:c.37_49del
ENST00000614349.4:c.206_218del ENSP00000480666.1:p.Glu69ValfsTer13
NM_001276503.1:c.169+930_169+942del NP_001263432.1:n.169+930_169+942del
NM_001276504.1:c.89_101del NP_001263433.1:p.Glu30ValfsTer13
NM_001276506.1:c.206_218del NP_001263435.1:p.Glu69ValfsTer13
NM_003002.3:c.206_218del NP_002993.1:p.Glu69ValfsTer13
NR_077060.1:n.290_302del
NM_003002.4:c.206_218del MANE Select NP_002993.1:p.Glu69ValfsTer13
NM_001276503.2:c.169+930_169+942del NP_001263432.1:n.169+930_169+942del
NM_001276504.2:c.89_101del NP_001263433.1:p.Glu30ValfsTer13
NM_001276506.2:c.206_218del NP_001263435.1:p.Glu69ValfsTer13
NR_077060.2:n.241_253del