Canonical Allele Identifier: CA2695215338

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094876dup , CM000673.2:g.112094876dup	GRCh38
NC_000011.9:g.111965600dup , CM000673.1:g.111965600dup	GRCh37
NC_000011.8:g.111470810dup	NCBI36
NG_012337.2:g.13030dup
NG_012337.3:g.13030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*125dup	ENSP00000432946.2:n.*125dup
ENST00000534010.2:c.314+5865dup	ENSP00000433202.2:n.314+5865dup
ENST00000375549.8:c.386dup MANE Select	ENSP00000364699.3:p.Leu129PhefsTer?
ENST00000528021.6:c.314+5865dup	ENSP00000432465.1:n.314+5865dup
ENST00000375549.7:c.386dup	ENSP00000364699.3:p.Leu129PhefsTer?
ENST00000525291.5:c.269dup	ENSP00000436669.1:p.Leu90PhefsTer?
ENST00000525987.5:n.319+5865dup
ENST00000526592.5:c.*84dup	ENSP00000432005.1:n.*84dup
ENST00000528021.5:c.314+5865dup	ENSP00000432465.1:n.314+5865dup
ENST00000528048.5:c.241dup	ENSP00000436217.1:p.Trp81LeufsTer?
ENST00000528182.5:c.379dup	ENSP00000435475.1:p.Trp127LeufsTer?
ENST00000530923.5:c.430dup
ENST00000531744.5:c.314+5865dup	ENSP00000456957.1:n.314+5865dup
ENST00000532699.1:c.314+5865dup	ENSP00000456434.1:n.314+5865dup
ENST00000534010.1:c.145+5865dup
NM_001276503.1:c.241dup	NP_001263432.1:p.Trp81LeufsTer?
NM_001276504.1:c.269dup	NP_001263433.1:p.Leu90PhefsTer?
NM_001276506.1:c.*84dup	NP_001263435.1:n.*84dup
NM_003002.3:c.386dup	NP_002993.1:p.Leu129PhefsTer?
NR_077060.1:n.524dup
NM_003002.4:c.386dup MANE Select	NP_002993.1:p.Leu129PhefsTer?
NM_001276503.2:c.241dup	NP_001263432.1:p.Trp81LeufsTer?
NM_001276504.2:c.269dup	NP_001263433.1:p.Leu90PhefsTer?
NM_001276506.2:c.*84dup	NP_001263435.1:n.*84dup
NR_077060.2:n.475dup