Canonical Allele Identifier: CA658658104

Gene: SDHD

Linked Data

• ClinVar Variation Id: 465230
• ClinVar RCV Id: RCV000563970 ; RCV003476276 ; RCV002231788
• dbSNP Id: rs1555187033

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088965_112088966delinsTT , CM000673.2:g.112088965_112088966delinsTT	GRCh38
NC_000011.9:g.111959689_111959690delinsTT , CM000673.1:g.111959689_111959690delinsTT	GRCh37
NC_000011.8:g.111464899_111464900delinsTT	NCBI36
NG_012337.2:g.7119_7120delinsTT
NG_033145.1:g.2833_2834delinsAA
NG_012337.3:g.7119_7120delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.268_269delinsTT	ENSP00000432946.2:p.Ala90Leu
ENST00000534010.2:c.268_269delinsTT	ENSP00000433202.2:p.Ala90Leu
ENST00000375549.8:c.268_269delinsTT MANE Select	ENSP00000364699.3:p.Ala90Leu
ENST00000528021.6:c.268_269delinsTT	ENSP00000432465.1:p.Ala90Leu
ENST00000640554.1:c.*340_*341delinsTT	ENSP00000491141.1:n.*340_*341delinsTT
ENST00000375549.7:c.268_269delinsTT	ENSP00000364699.3:p.Ala90Leu
ENST00000525291.5:c.151_152delinsTT	ENSP00000436669.1:p.Ala51Leu
ENST00000525987.5:n.273_274delinsTT
ENST00000526592.5:c.268_269delinsTT	ENSP00000432005.1:p.Ala90Leu
ENST00000528021.5:c.268_269delinsTT	ENSP00000432465.1:p.Ala90Leu
ENST00000528048.5:c.169+992_169+993delinsTT	ENSP00000436217.1:n.169+992_169+993delinsTT
ENST00000528182.5:c.268_269delinsTT	ENSP00000435475.1:p.Ala90Leu
ENST00000530923.5:c.258_259delinsTT
ENST00000531744.5:c.268_269delinsTT	ENSP00000456957.1:p.Ala90Leu
ENST00000532699.1:c.268_269delinsTT	ENSP00000456434.1:p.Ala90Leu
ENST00000534010.1:c.99_100delinsTT
ENST00000614349.4:c.268_269delinsTT	ENSP00000480666.1:p.Ala90Leu
NM_001276503.1:c.169+992_169+993delinsTT	NP_001263432.1:n.169+992_169+993delinsTT
NM_001276504.1:c.151_152delinsTT	NP_001263433.1:p.Ala51Leu
NM_001276506.1:c.268_269delinsTT	NP_001263435.1:p.Ala90Leu
NM_003002.3:c.268_269delinsTT	NP_002993.1:p.Ala90Leu
NR_077060.1:n.352_353delinsTT
NM_003002.4:c.268_269delinsTT MANE Select	NP_002993.1:p.Ala90Leu
NM_001276503.2:c.169+992_169+993delinsTT	NP_001263432.1:n.169+992_169+993delinsTT
NM_001276504.2:c.151_152delinsTT	NP_001263433.1:p.Ala51Leu
NM_001276506.2:c.268_269delinsTT	NP_001263435.1:p.Ala90Leu
NR_077060.2:n.303_304delinsTT