Canonical Allele Identifier: CA2000553974
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094868_112094869delinsAG , CM000673.2:g.112094868_112094869delinsAG GRCh38
NC_000011.9:g.111965592_111965593delinsAG , CM000673.1:g.111965592_111965593delinsAG GRCh37
NC_000011.8:g.111470802_111470803delinsAG NCBI36
NG_012337.2:g.13022_13023delinsAG
NG_012337.3:g.13022_13023delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*117_*118delinsAG ENSP00000432946.2:n.*117_*118delinsAG
ENST00000534010.2:c.314+5857_314+5858delinsAG ENSP00000433202.2:n.314+5857_314+5858delinsAG
ENST00000375549.8:c.378_379delinsAG MANE Select ENSP00000364699.3:p.Ala126=
ENST00000528021.6:c.314+5857_314+5858delinsAG ENSP00000432465.1:n.314+5857_314+5858delinsAG
ENST00000375549.7:c.378_379delinsAG ENSP00000364699.3:p.Ala126=
ENST00000525291.5:c.261_262delinsAG ENSP00000436669.1:p.Ala87=
ENST00000525987.5:n.319+5857_319+5858delinsAG
ENST00000526592.5:c.*76_*77delinsAG ENSP00000432005.1:n.*76_*77delinsAG
ENST00000528021.5:c.314+5857_314+5858delinsAG ENSP00000432465.1:n.314+5857_314+5858delinsAG
ENST00000528048.5:c.233_234delinsAG ENSP00000436217.1:p.Gln78=
ENST00000528182.5:c.371_372delinsAG ENSP00000435475.1:p.Gln124=
ENST00000530923.5:c.422_423delinsAG
ENST00000531744.5:c.314+5857_314+5858delinsAG ENSP00000456957.1:n.314+5857_314+5858delinsAG
ENST00000532699.1:c.314+5857_314+5858delinsAG ENSP00000456434.1:n.314+5857_314+5858delinsAG
ENST00000534010.1:c.145+5857_145+5858delinsAG
NM_001276503.1:c.233_234delinsAG NP_001263432.1:p.Gln78=
NM_001276504.1:c.261_262delinsAG NP_001263433.1:p.Ala87=
NM_001276506.1:c.*76_*77delinsAG NP_001263435.1:n.*76_*77delinsAG
NM_003002.3:c.378_379delinsAG NP_002993.1:p.Ala126=
NR_077060.1:n.516_517delinsAG
NM_003002.4:c.378_379delinsAG MANE Select NP_002993.1:p.Ala126=
NM_001276503.2:c.233_234delinsAG NP_001263432.1:p.Gln78=
NM_001276504.2:c.261_262delinsAG NP_001263433.1:p.Ala87=
NM_001276506.2:c.*76_*77delinsAG NP_001263435.1:n.*76_*77delinsAG
NR_077060.2:n.467_468delinsAG