Canonical Allele Identifier: CA658821855

Gene: SDHD

Linked Data

• ClinVar Variation Id: 547769
• ClinVar RCV Id: RCV000660261 ; RCV002235529
• dbSNP Id: rs1555186662
• MyVariant Identifiers: chr11:g.111957649_111957652del (hg19) ; chr11:g.112086925_112086928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086925_112086928del , CM000673.2:g.112086925_112086928del	GRCh38
NC_000011.9:g.111957649_111957652del , CM000673.1:g.111957649_111957652del	GRCh37
NC_000011.8:g.111462859_111462862del	NCBI36
NG_012337.2:g.5079_5082del
NG_033145.1:g.4872_4875del
NG_012337.3:g.5079_5082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.18_21del	ENSP00000432946.2:p.Leu7ValfsTer7
ENST00000534010.2:c.18_21del	ENSP00000433202.2:p.Leu7ValfsTer7
ENST00000375549.8:c.18_21del MANE Select	ENSP00000364699.3:p.Leu7ValfsTer7
ENST00000528021.6:c.18_21del	ENSP00000432465.1:p.Leu7ValfsTer7
ENST00000640554.1:c.18_21del	ENSP00000491141.1:p.Leu7ValfsTer7
ENST00000375549.7:c.18_21del	ENSP00000364699.3:p.Leu7ValfsTer7
ENST00000525291.5:c.18_21del	ENSP00000436669.1:p.Leu7ValfsTer7
ENST00000525987.5:n.23_26del
ENST00000526592.5:c.18_21del	ENSP00000432005.1:p.Leu7ValfsTer7
ENST00000528021.5:c.18_21del	ENSP00000432465.1:p.Leu7ValfsTer7
ENST00000528048.5:c.18_21del	ENSP00000436217.1:p.Leu7ValfsTer7
ENST00000528182.5:c.18_21del	ENSP00000435475.1:p.Leu7ValfsTer7
ENST00000530923.5:c.8_11del
ENST00000531744.5:c.18_21del	ENSP00000456957.1:p.Leu7ValfsTer7
ENST00000532699.1:c.18_21del	ENSP00000456434.1:p.Leu7ValfsTer7
ENST00000614349.4:c.18_21del	ENSP00000480666.1:p.Leu7ValfsTer7
NM_001276503.1:c.18_21del	NP_001263432.1:p.Leu7ValfsTer7
NM_001276504.1:c.18_21del	NP_001263433.1:p.Leu7ValfsTer7
NM_001276506.1:c.18_21del	NP_001263435.1:p.Leu7ValfsTer7
NM_003002.3:c.18_21del	NP_002993.1:p.Leu7ValfsTer7
NR_077060.1:n.102_105del
NM_003002.4:c.18_21del MANE Select	NP_002993.1:p.Leu7ValfsTer7
NM_001276503.2:c.18_21del	NP_001263432.1:p.Leu7ValfsTer7
NM_001276504.2:c.18_21del	NP_001263433.1:p.Leu7ValfsTer7
NM_001276506.2:c.18_21del	NP_001263435.1:p.Leu7ValfsTer7
NR_077060.2:n.53_56del