Canonical Allele Identifier: CA1139662340

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094873_112094876dup , CM000673.2:g.112094873_112094876dup	GRCh38
NC_000011.9:g.111965597_111965600dup , CM000673.1:g.111965597_111965600dup	GRCh37
NC_000011.8:g.111470807_111470810dup	NCBI36
NG_012337.2:g.13027_13030dup
NG_012337.3:g.13027_13030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*122_*125dup	ENSP00000432946.2:n.*122_*125dup
ENST00000534010.2:c.314+5862_314+5865dup	ENSP00000433202.2:n.314+5862_314+5865dup
ENST00000375549.8:c.383_386dup MANE Select	ENSP00000364699.3:p.Leu129PhefsTer?
ENST00000528021.6:c.314+5862_314+5865dup	ENSP00000432465.1:n.314+5862_314+5865dup
ENST00000375549.7:c.383_386dup	ENSP00000364699.3:p.Leu129PhefsTer?
ENST00000525291.5:c.266_269dup	ENSP00000436669.1:p.Leu90PhefsTer?
ENST00000525987.5:n.319+5862_319+5865dup
ENST00000526592.5:c.*81_*84dup	ENSP00000432005.1:n.*81_*84dup
ENST00000528021.5:c.314+5862_314+5865dup	ENSP00000432465.1:n.314+5862_314+5865dup
ENST00000528048.5:c.238_241dup	ENSP00000436217.1:p.Trp81PhefsTer?
ENST00000528182.5:c.376_379dup	ENSP00000435475.1:p.Trp127PhefsTer?
ENST00000530923.5:c.427_430dup
ENST00000531744.5:c.314+5862_314+5865dup	ENSP00000456957.1:n.314+5862_314+5865dup
ENST00000532699.1:c.314+5862_314+5865dup	ENSP00000456434.1:n.314+5862_314+5865dup
ENST00000534010.1:c.145+5862_145+5865dup
NM_001276503.1:c.238_241dup	NP_001263432.1:p.Trp81PhefsTer?
NM_001276504.1:c.266_269dup	NP_001263433.1:p.Leu90PhefsTer?
NM_001276506.1:c.*81_*84dup	NP_001263435.1:n.*81_*84dup
NM_003002.3:c.383_386dup	NP_002993.1:p.Leu129PhefsTer?
NR_077060.1:n.521_524dup
NM_003002.4:c.383_386dup MANE Select	NP_002993.1:p.Leu129PhefsTer?
NM_001276503.2:c.238_241dup	NP_001263432.1:p.Trp81PhefsTer?
NM_001276504.2:c.266_269dup	NP_001263433.1:p.Leu90PhefsTer?
NM_001276506.2:c.*81_*84dup	NP_001263435.1:n.*81_*84dup
NR_077060.2:n.472_475dup