Canonical Allele Identifier: CA2695215322

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2931847
• ClinVar RCV Id: RCV003792869

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088938_112088959del , CM000673.2:g.112088938_112088959del	GRCh38
NC_000011.9:g.111959662_111959683del , CM000673.1:g.111959662_111959683del	GRCh37
NC_000011.8:g.111464872_111464893del	NCBI36
NG_012337.2:g.7092_7113del
NG_033145.1:g.2843_2864del
NG_012337.3:g.7092_7113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.241_262del	ENSP00000432946.2:p.Pro81AlafsTer22
ENST00000534010.2:c.241_262del	ENSP00000433202.2:p.Pro81AlafsTer?
ENST00000375549.8:c.241_262del MANE Select	ENSP00000364699.3:p.Pro81AlafsTer?
ENST00000528021.6:c.241_262del	ENSP00000432465.1:p.Pro81AlafsTer?
ENST00000640554.1:c.*313_*334del	ENSP00000491141.1:n.*313_*334del
ENST00000375549.7:c.241_262del	ENSP00000364699.3:p.Pro81AlafsTer?
ENST00000525291.5:c.124_145del	ENSP00000436669.1:p.Pro42AlafsTer?
ENST00000525987.5:n.246_267del
ENST00000526592.5:c.241_262del	ENSP00000432005.1:p.Pro81AlafsTer?
ENST00000528021.5:c.241_262del	ENSP00000432465.1:p.Pro81AlafsTer?
ENST00000528048.5:c.169+965_169+986del	ENSP00000436217.1:n.169+965_169+986del
ENST00000528182.5:c.241_262del	ENSP00000435475.1:p.Pro81AlafsTer23
ENST00000530923.5:c.231_252del
ENST00000531744.5:c.241_262del	ENSP00000456957.1:p.Pro81AlafsTer23
ENST00000532699.1:c.241_262del	ENSP00000456434.1:p.Pro81AlafsTer23
ENST00000534010.1:c.72_93del
ENST00000614349.4:c.241_262del	ENSP00000480666.1:p.Pro81AlafsTer?
NM_001276503.1:c.169+965_169+986del	NP_001263432.1:n.169+965_169+986del
NM_001276504.1:c.124_145del	NP_001263433.1:p.Pro42AlafsTer?
NM_001276506.1:c.241_262del	NP_001263435.1:p.Pro81AlafsTer?
NM_003002.3:c.241_262del	NP_002993.1:p.Pro81AlafsTer?
NR_077060.1:n.325_346del
NM_003002.4:c.241_262del MANE Select	NP_002993.1:p.Pro81AlafsTer?
NM_001276503.2:c.169+965_169+986del	NP_001263432.1:n.169+965_169+986del
NM_001276504.2:c.124_145del	NP_001263433.1:p.Pro42AlafsTer?
NM_001276506.2:c.241_262del	NP_001263435.1:p.Pro81AlafsTer?
NR_077060.2:n.276_297del