Canonical Allele Identifier: CA2580083458

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2035265
• ClinVar RCV Id: RCV002889946
• gnomAD v4: 11-112087938-GAGTGCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087940_112087947del , CM000673.2:g.112087940_112087947del	GRCh38
NC_000011.9:g.111958664_111958671del , CM000673.1:g.111958664_111958671del	GRCh37
NC_000011.8:g.111463874_111463881del	NCBI36
NG_012337.2:g.6094_6101del
NG_033145.1:g.3853_3860del
NG_012337.3:g.6094_6101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.136_143del	ENSP00000432946.2:p.Val46HisfsTer20
ENST00000534010.2:c.136_143del	ENSP00000433202.2:p.Val46HisfsTer20
ENST00000375549.8:c.136_143del MANE Select	ENSP00000364699.3:p.Val46HisfsTer20
ENST00000528021.6:c.136_143del	ENSP00000432465.1:p.Val46HisfsTer20
ENST00000640554.1:c.136_143del	ENSP00000491141.1:p.Val46HisfsTer?
ENST00000375549.7:c.136_143del	ENSP00000364699.3:p.Val46HisfsTer20
ENST00000525291.5:c.53-927_53-920del	ENSP00000436669.1:n.53-927_53-920del
ENST00000525987.5:n.141_148del
ENST00000526592.5:c.136_143del	ENSP00000432005.1:p.Val46HisfsTer20
ENST00000528021.5:c.136_143del	ENSP00000432465.1:p.Val46HisfsTer20
ENST00000528048.5:c.136_143del	ENSP00000436217.1:p.Val46HisfsTer?
ENST00000528182.5:c.136_143del	ENSP00000435475.1:p.Val46HisfsTer20
ENST00000530923.5:c.126_133del
ENST00000531744.5:c.136_143del	ENSP00000456957.1:p.Val46HisfsTer20
ENST00000532699.1:c.136_143del	ENSP00000456434.1:p.Val46HisfsTer20
ENST00000614349.4:c.136_143del	ENSP00000480666.1:p.Val46HisfsTer20
NM_001276503.1:c.136_143del	NP_001263432.1:p.Val46HisfsTer?
NM_001276504.1:c.53-927_53-920del	NP_001263433.1:n.53-927_53-920del
NM_001276506.1:c.136_143del	NP_001263435.1:p.Val46HisfsTer20
NM_003002.3:c.136_143del	NP_002993.1:p.Val46HisfsTer20
NR_077060.1:n.220_227del
NM_003002.4:c.136_143del MANE Select	NP_002993.1:p.Val46HisfsTer20
NM_001276503.2:c.136_143del	NP_001263432.1:p.Val46HisfsTer?
NM_001276504.2:c.53-927_53-920del	NP_001263433.1:n.53-927_53-920del
NM_001276506.2:c.136_143del	NP_001263435.1:p.Val46HisfsTer20
NR_077060.2:n.171_178del