Canonical Allele Identifier: CA1139662329

Gene: SDHD

Linked Data

• ClinVar Variation Id: 942473
• ClinVar RCV Id: RCV002241201
• dbSNP Id: rs1865686266

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088901_112088902del , CM000673.2:g.112088901_112088902del	GRCh38
NC_000011.9:g.111959625_111959626del , CM000673.1:g.111959625_111959626del	GRCh37
NC_000011.8:g.111464835_111464836del	NCBI36
NG_012337.2:g.7055_7056del
NG_033145.1:g.2898_2899del
NG_012337.3:g.7055_7056del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.204_205del	ENSP00000432946.2:p.Ser68ArgfsTer?
ENST00000534010.2:c.204_205del	ENSP00000433202.2:p.Ser68ArgfsTer?
ENST00000375549.8:c.204_205del MANE Select	ENSP00000364699.3:p.Ser68ArgfsTer?
ENST00000528021.6:c.204_205del	ENSP00000432465.1:p.Ser68ArgfsTer?
ENST00000640554.1:c.*276_*277del	ENSP00000491141.1:n.*276_*277del
ENST00000375549.7:c.204_205del	ENSP00000364699.3:p.Ser68ArgfsTer?
ENST00000525291.5:c.87_88del	ENSP00000436669.1:p.Ser29ArgfsTer?
ENST00000525987.5:n.209_210del
ENST00000526592.5:c.204_205del	ENSP00000432005.1:p.Ser68ArgfsTer?
ENST00000528021.5:c.204_205del	ENSP00000432465.1:p.Ser68ArgfsTer?
ENST00000528048.5:c.169+928_169+929del	ENSP00000436217.1:n.169+928_169+929del
ENST00000528182.5:c.204_205del	ENSP00000435475.1:p.Ser68ArgfsTer?
ENST00000530923.5:c.194_195del
ENST00000531744.5:c.204_205del	ENSP00000456957.1:p.Ser68ArgfsTer?
ENST00000532699.1:c.204_205del	ENSP00000456434.1:p.Ser68ArgfsTer?
ENST00000534010.1:c.35_36del
ENST00000614349.4:c.204_205del	ENSP00000480666.1:p.Ser68ArgfsTer?
NM_001276503.1:c.169+928_169+929del	NP_001263432.1:n.169+928_169+929del
NM_001276504.1:c.87_88del	NP_001263433.1:p.Ser29ArgfsTer?
NM_001276506.1:c.204_205del	NP_001263435.1:p.Ser68ArgfsTer?
NM_003002.3:c.204_205del	NP_002993.1:p.Ser68ArgfsTer?
NR_077060.1:n.288_289del
NM_003002.4:c.204_205del MANE Select	NP_002993.1:p.Ser68ArgfsTer?
NM_001276503.2:c.169+928_169+929del	NP_001263432.1:n.169+928_169+929del
NM_001276504.2:c.87_88del	NP_001263433.1:p.Ser29ArgfsTer?
NM_001276506.2:c.204_205del	NP_001263435.1:p.Ser68ArgfsTer?
NR_077060.2:n.239_240del