Canonical Allele Identifier: CA2000554002

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094881_112094882delinsCT , CM000673.2:g.112094881_112094882delinsCT	GRCh38
NC_000011.9:g.111965605_111965606delinsCT , CM000673.1:g.111965605_111965606delinsCT	GRCh37
NC_000011.8:g.111470815_111470816delinsCT	NCBI36
NG_012337.2:g.13035_13036delinsCT
NG_012337.3:g.13035_13036delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*130_*131delinsCT	ENSP00000432946.2:n.*130_*131delinsCT
ENST00000534010.2:c.314+5870_314+5871delinsCT	ENSP00000433202.2:n.314+5870_314+5871delinsCT
ENST00000375549.8:c.391_392delinsCT MANE Select	ENSP00000364699.3:p.Leu131=
ENST00000528021.6:c.314+5870_314+5871delinsCT	ENSP00000432465.1:n.314+5870_314+5871delinsCT
ENST00000375549.7:c.391_392delinsCT	ENSP00000364699.3:p.Leu131=
ENST00000525291.5:c.274_275delinsCT	ENSP00000436669.1:p.Leu92=
ENST00000525987.5:n.319+5870_319+5871delinsCT
ENST00000526592.5:c.*89_*90delinsCT	ENSP00000432005.1:n.*89_*90delinsCT
ENST00000528021.5:c.314+5870_314+5871delinsCT	ENSP00000432465.1:n.314+5870_314+5871delinsCT
ENST00000528048.5:c.246_247delinsCT	ENSP00000436217.1:p.His82=
ENST00000528182.5:c.384_385delinsCT	ENSP00000435475.1:p.His128=
ENST00000530923.5:c.435_436delinsCT
ENST00000531744.5:c.314+5870_314+5871delinsCT	ENSP00000456957.1:n.314+5870_314+5871delinsCT
ENST00000532699.1:c.314+5870_314+5871delinsCT	ENSP00000456434.1:n.314+5870_314+5871delinsCT
ENST00000534010.1:c.145+5870_145+5871delinsCT
NM_001276503.1:c.246_247delinsCT	NP_001263432.1:p.His82=
NM_001276504.1:c.274_275delinsCT	NP_001263433.1:p.Leu92=
NM_001276506.1:c.*89_*90delinsCT	NP_001263435.1:n.*89_*90delinsCT
NM_003002.3:c.391_392delinsCT	NP_002993.1:p.Leu131=
NR_077060.1:n.529_530delinsCT
NM_003002.4:c.391_392delinsCT MANE Select	NP_002993.1:p.Leu131=
NM_001276503.2:c.246_247delinsCT	NP_001263432.1:p.His82=
NM_001276504.2:c.274_275delinsCT	NP_001263433.1:p.Leu92=
NM_001276506.2:c.*89_*90delinsCT	NP_001263435.1:n.*89_*90delinsCT
NR_077060.2:n.480_481delinsCT