Canonical Allele Identifier: CA2740090844
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 2942976
ClinVar RCV Id: RCV003808142

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087847_112087848del , CM000673.2:g.112087847_112087848del GRCh38
NC_000011.9:g.111958571_111958572del , CM000673.1:g.111958571_111958572del GRCh37
NC_000011.8:g.111463781_111463782del NCBI36
NG_012337.2:g.6001_6002del
NG_033145.1:g.3953_3954del
NG_012337.3:g.6001_6002del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.53-10_53-9del ENSP00000432946.2:n.53-10_53-9del
ENST00000534010.2:c.53-10_53-9del ENSP00000433202.2:n.53-10_53-9del
ENST00000375549.8:c.53-10_53-9del MANE Select ENSP00000364699.3:n.53-10_53-9del
ENST00000528021.6:c.53-10_53-9del ENSP00000432465.1:n.53-10_53-9del
ENST00000640554.1:c.53-10_53-9del ENSP00000491141.1:n.53-10_53-9del
ENST00000375549.7:c.53-10_53-9del ENSP00000364699.3:n.53-10_53-9del
ENST00000525291.5:c.52+888_52+889del ENSP00000436669.1:n.52+888_52+889del
ENST00000525987.5:n.58-10_58-9del
ENST00000526592.5:c.53-10_53-9del ENSP00000432005.1:n.53-10_53-9del
ENST00000528021.5:c.53-10_53-9del ENSP00000432465.1:n.53-10_53-9del
ENST00000528048.5:c.53-10_53-9del ENSP00000436217.1:n.53-10_53-9del
ENST00000528182.5:c.53-10_53-9del ENSP00000435475.1:n.53-10_53-9del
ENST00000530923.5:c.43-10_43-9del
ENST00000531744.5:c.53-10_53-9del ENSP00000456957.1:n.53-10_53-9del
ENST00000532699.1:c.53-10_53-9del ENSP00000456434.1:n.53-10_53-9del
ENST00000614349.4:c.53-10_53-9del ENSP00000480666.1:n.53-10_53-9del
NM_001276503.1:c.53-10_53-9del NP_001263432.1:n.53-10_53-9del
NM_001276504.1:c.52+888_52+889del NP_001263433.1:n.52+888_52+889del
NM_001276506.1:c.53-10_53-9del NP_001263435.1:n.53-10_53-9del
NM_003002.3:c.53-10_53-9del NP_002993.1:n.53-10_53-9del
NR_077060.1:n.137-10_137-9del
NM_003002.4:c.53-10_53-9del MANE Select NP_002993.1:n.53-10_53-9del
NM_001276503.2:c.53-10_53-9del NP_001263432.1:n.53-10_53-9del
NM_001276504.2:c.52+888_52+889del NP_001263433.1:n.52+888_52+889del
NM_001276506.2:c.53-10_53-9del NP_001263435.1:n.53-10_53-9del
NR_077060.2:n.88-10_88-9del