Canonical Allele Identifier: CA2089790485
Gene: SUCLA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47949389_47949401delinsGCTATTTAAAAAC , CM000675.2:g.47949389_47949401delinsGCTATTTAAAAAC GRCh38
NC_000013.10:g.48523524_48523536delinsGCTATTTAAAAAC , CM000675.1:g.48523524_48523536delinsGCTATTTAAAAAC GRCh37
NC_000013.9:g.47421525_47421537delinsGCTATTTAAAAAC NCBI36
NG_008241.1:g.56927_56939delinsGTTTTTAAATAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000634878.2:c.741+82_741+94delinsGTTTTTAAATAGC
ENST00000642944.1:c.1054+82_1054+94delinsGTTTTTAAATAGC ENSP00000495674.1:n.1054+82_1054+94delinsGTTTTTAAATAGC
ENST00000643023.1:c.1291+82_1291+94delinsGTTTTTAAATAGC ENSP00000495664.1:n.1291+82_1291+94delinsGTTTTTAAATAGC
ENST00000643584.1:c.1228+82_1228+94delinsGTTTTTAAATAGC ENSP00000494987.1:n.1228+82_1228+94delinsGTTTTTAAATAGC
ENST00000646804.1:c.1054+82_1054+94delinsGTTTTTAAATAGC ENSP00000493977.1:n.1054+82_1054+94delinsGTTTTTAAATAGC
ENST00000646932.1:c.1228+82_1228+94delinsGTTTTTAAATAGC MANE Select ENSP00000494360.1:n.1228+82_1228+94delinsGTTTTTAAATAGC
ENST00000647361.1:c.*1021+82_*1021+94delinsGTTTTTAAATAGC ENSP00000494607.1:n.*1021+82_*1021+94delinsGTTTTTAAATAGC
ENST00000378654.8:c.1228+82_1228+94delinsGTTTTTAAATAGC ENSP00000367923.3:n.1228+82_1228+94delinsGTTTTTAAATAGC
ENST00000467222.1:n.536+82_536+94delinsGTTTTTAAATAGC
ENST00000493152.6:c.79+82_79+94delinsGTTTTTAAATAGC ENSP00000489055.1:n.79+82_79+94delinsGTTTTTAAATAGC
ENST00000634878.1:c.741+82_741+94delinsGTTTTTAAATAGC
NM_003850.2:c.1228+82_1228+94delinsGTTTTTAAATAGC NP_003841.1:n.1228+82_1228+94delinsGTTTTTAAATAGC
XM_011535292.1:c.991+82_991+94delinsGTTTTTAAATAGC XP_011533594.1:n.991+82_991+94delinsGTTTTTAAATAGC
XM_011535293.1:c.826+82_826+94delinsGTTTTTAAATAGC XP_011533595.1:n.826+82_826+94delinsGTTTTTAAATAGC
NM_003850.3:c.1228+82_1228+94delinsGTTTTTAAATAGC MANE Select NP_003841.1:n.1228+82_1228+94delinsGTTTTTAAATAGC