Canonical Allele Identifier: CA2695215316
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088868del , CM000673.2:g.112088868del GRCh38
NC_000011.9:g.111959592del , CM000673.1:g.111959592del GRCh37
NC_000011.8:g.111464802del NCBI36
NG_012337.2:g.7022del
NG_033145.1:g.2931del
NG_012337.3:g.7022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.171del ENSP00000432946.2:p.Gly58AlafsTer28
ENST00000534010.2:c.171del ENSP00000433202.2:p.Gly58AlafsTer28
ENST00000375549.8:c.171del MANE Select ENSP00000364699.3:p.Gly58AlafsTer28
ENST00000528021.6:c.171del ENSP00000432465.1:p.Gly58AlafsTer28
ENST00000640554.1:c.*243del ENSP00000491141.1:n.*243del
ENST00000375549.7:c.171del ENSP00000364699.3:p.Gly58AlafsTer28
ENST00000525291.5:c.54del ENSP00000436669.1:p.Gly19AlafsTer28
ENST00000525987.5:n.176del
ENST00000526592.5:c.171del ENSP00000432005.1:p.Gly58AlafsTer28
ENST00000528021.5:c.171del ENSP00000432465.1:p.Gly58AlafsTer28
ENST00000528048.5:c.169+895del ENSP00000436217.1:n.169+895del
ENST00000528182.5:c.171del ENSP00000435475.1:p.Gly58AlafsTer28
ENST00000530923.5:c.161del
ENST00000531744.5:c.171del ENSP00000456957.1:p.Gly58AlafsTer28
ENST00000532699.1:c.171del ENSP00000456434.1:p.Gly58AlafsTer28
ENST00000534010.1:c.2del
ENST00000614349.4:c.171del ENSP00000480666.1:p.Gly58AlafsTer28
NM_001276503.1:c.169+895del NP_001263432.1:n.169+895del
NM_001276504.1:c.54del NP_001263433.1:p.Gly19AlafsTer28
NM_001276506.1:c.171del NP_001263435.1:p.Gly58AlafsTer28
NM_003002.3:c.171del NP_002993.1:p.Gly58AlafsTer28
NR_077060.1:n.255del
NM_003002.4:c.171del MANE Select NP_002993.1:p.Gly58AlafsTer28
NM_001276503.2:c.169+895del NP_001263432.1:n.169+895del
NM_001276504.2:c.54del NP_001263433.1:p.Gly19AlafsTer28
NM_001276506.2:c.171del NP_001263435.1:p.Gly58AlafsTer28
NR_077060.2:n.206del