Canonical Allele Identifier: CA2695215329

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088984dup , CM000673.2:g.112088984dup	GRCh38
NC_000011.9:g.111959708dup , CM000673.1:g.111959708dup	GRCh37
NC_000011.8:g.111464918dup	NCBI36
NG_012337.2:g.7138dup
NG_033145.1:g.2815dup
NG_012337.3:g.7138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.287dup	ENSP00000432946.2:p.Ala97CysfsTer23
ENST00000534010.2:c.287dup	ENSP00000433202.2:p.Ala97CysfsTer14
ENST00000375549.8:c.287dup MANE Select	ENSP00000364699.3:p.Ala97CysfsTer17
ENST00000528021.6:c.287dup	ENSP00000432465.1:p.Ala97CysfsTer26
ENST00000640554.1:c.*359dup	ENSP00000491141.1:n.*359dup
ENST00000375549.7:c.287dup	ENSP00000364699.3:p.Ala97CysfsTer17
ENST00000525291.5:c.170dup	ENSP00000436669.1:p.Ala58CysfsTer17
ENST00000525987.5:n.292dup
ENST00000526592.5:c.287dup	ENSP00000432005.1:p.Ala97CysfsTer?
ENST00000528021.5:c.287dup	ENSP00000432465.1:p.Ala97CysfsTer26
ENST00000528048.5:c.169+1011dup	ENSP00000436217.1:n.169+1011dup
ENST00000528182.5:c.287dup	ENSP00000435475.1:p.Ala97CysfsTer?
ENST00000530923.5:c.277dup
ENST00000531744.5:c.287dup	ENSP00000456957.1:p.Ala97CysfsTer?
ENST00000532699.1:c.287dup	ENSP00000456434.1:p.Ala97CysfsTer?
ENST00000534010.1:c.118dup
ENST00000614349.4:c.287dup	ENSP00000480666.1:p.Ala97CysfsTer?
NM_001276503.1:c.169+1011dup	NP_001263432.1:n.169+1011dup
NM_001276504.1:c.170dup	NP_001263433.1:p.Ala58CysfsTer17
NM_001276506.1:c.287dup	NP_001263435.1:p.Ala97CysfsTer?
NM_003002.3:c.287dup	NP_002993.1:p.Ala97CysfsTer17
NR_077060.1:n.371dup
NM_003002.4:c.287dup MANE Select	NP_002993.1:p.Ala97CysfsTer17
NM_001276503.2:c.169+1011dup	NP_001263432.1:n.169+1011dup
NM_001276504.2:c.170dup	NP_001263433.1:p.Ala58CysfsTer17
NM_001276506.2:c.287dup	NP_001263435.1:p.Ala97CysfsTer?
NR_077060.2:n.322dup