Canonical Allele Identifier: CA2573146859

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1457320
• ClinVar RCV Id: RCV001953697
• dbSNP Id: rs2135269378

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088921del , CM000673.2:g.112088921del	GRCh38
NC_000011.9:g.111959645del , CM000673.1:g.111959645del	GRCh37
NC_000011.8:g.111464855del	NCBI36
NG_012337.2:g.7075del
NG_033145.1:g.2881del
NG_012337.3:g.7075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.224del	ENSP00000432946.2:p.Leu75CysfsTer11
ENST00000534010.2:c.224del	ENSP00000433202.2:p.Leu75CysfsTer11
ENST00000375549.8:c.224del MANE Select	ENSP00000364699.3:p.Leu75CysfsTer11
ENST00000528021.6:c.224del	ENSP00000432465.1:p.Leu75CysfsTer11
ENST00000640554.1:c.*296del	ENSP00000491141.1:n.*296del
ENST00000375549.7:c.224del	ENSP00000364699.3:p.Leu75CysfsTer11
ENST00000525291.5:c.107del	ENSP00000436669.1:p.Leu36CysfsTer11
ENST00000525987.5:n.229del
ENST00000526592.5:c.224del	ENSP00000432005.1:p.Leu75CysfsTer11
ENST00000528021.5:c.224del	ENSP00000432465.1:p.Leu75CysfsTer11
ENST00000528048.5:c.169+948del	ENSP00000436217.1:n.169+948del
ENST00000528182.5:c.224del	ENSP00000435475.1:p.Leu75CysfsTer11
ENST00000530923.5:c.214del
ENST00000531744.5:c.224del	ENSP00000456957.1:p.Leu75CysfsTer11
ENST00000532699.1:c.224del	ENSP00000456434.1:p.Leu75CysfsTer11
ENST00000534010.1:c.55del
ENST00000614349.4:c.224del	ENSP00000480666.1:p.Leu75CysfsTer11
NM_001276503.1:c.169+948del	NP_001263432.1:n.169+948del
NM_001276504.1:c.107del	NP_001263433.1:p.Leu36CysfsTer11
NM_001276506.1:c.224del	NP_001263435.1:p.Leu75CysfsTer11
NM_003002.3:c.224del	NP_002993.1:p.Leu75CysfsTer11
NR_077060.1:n.308del
NM_003002.4:c.224del MANE Select	NP_002993.1:p.Leu75CysfsTer11
NM_001276503.2:c.169+948del	NP_001263432.1:n.169+948del
NM_001276504.2:c.107del	NP_001263433.1:p.Leu36CysfsTer11
NM_001276506.2:c.224del	NP_001263435.1:p.Leu75CysfsTer11
NR_077060.2:n.259del