Canonical Allele Identifier: CA2695215339

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094877_112094878dup , CM000673.2:g.112094877_112094878dup	GRCh38
NC_000011.9:g.111965601_111965602dup , CM000673.1:g.111965601_111965602dup	GRCh37
NC_000011.8:g.111470811_111470812dup	NCBI36
NG_012337.2:g.13031_13032dup
NG_012337.3:g.13031_13032dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*126_*127dup	ENSP00000432946.2:n.*126_*127dup
ENST00000534010.2:c.314+5866_314+5867dup	ENSP00000433202.2:n.314+5866_314+5867dup
ENST00000375549.8:c.387_388dup MANE Select	ENSP00000364699.3:p.Ala130GlyfsTer6
ENST00000528021.6:c.314+5866_314+5867dup	ENSP00000432465.1:n.314+5866_314+5867dup
ENST00000375549.7:c.387_388dup	ENSP00000364699.3:p.Ala130GlyfsTer6
ENST00000525291.5:c.270_271dup	ENSP00000436669.1:p.Ala91GlyfsTer6
ENST00000525987.5:n.319+5866_319+5867dup
ENST00000526592.5:c.*85_*86dup	ENSP00000432005.1:n.*85_*86dup
ENST00000528021.5:c.314+5866_314+5867dup	ENSP00000432465.1:n.314+5866_314+5867dup
ENST00000528048.5:c.242_243dup	ENSP00000436217.1:p.His82GlyfsTer?
ENST00000528182.5:c.380_381dup	ENSP00000435475.1:p.His128GlyfsTer?
ENST00000530923.5:c.431_432dup
ENST00000531744.5:c.314+5866_314+5867dup	ENSP00000456957.1:n.314+5866_314+5867dup
ENST00000532699.1:c.314+5866_314+5867dup	ENSP00000456434.1:n.314+5866_314+5867dup
ENST00000534010.1:c.145+5866_145+5867dup
NM_001276503.1:c.242_243dup	NP_001263432.1:p.His82GlyfsTer?
NM_001276504.1:c.270_271dup	NP_001263433.1:p.Ala91GlyfsTer6
NM_001276506.1:c.*85_*86dup	NP_001263435.1:n.*85_*86dup
NM_003002.3:c.387_388dup	NP_002993.1:p.Ala130GlyfsTer6
NR_077060.1:n.525_526dup
NM_003002.4:c.387_388dup MANE Select	NP_002993.1:p.Ala130GlyfsTer6
NM_001276503.2:c.242_243dup	NP_001263432.1:p.His82GlyfsTer?
NM_001276504.2:c.270_271dup	NP_001263433.1:p.Ala91GlyfsTer6
NM_001276506.2:c.*85_*86dup	NP_001263435.1:n.*85_*86dup
NR_077060.2:n.476_477dup