Canonical Allele Identifier: CA2575412364

Gene: SUCLA2

Linked Data

• gnomAD v4: 13-47949413-AAACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949418_47949422del , CM000675.2:g.47949418_47949422del	GRCh38
NC_000013.10:g.48523553_48523557del , CM000675.1:g.48523553_48523557del	GRCh37
NC_000013.9:g.47421554_47421558del	NCBI36
NG_008241.1:g.56910_56914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.741+65_741+69del
ENST00000642944.1:c.1054+65_1054+69del	ENSP00000495674.1:n.1054+65_1054+69del
ENST00000643023.1:c.1291+65_1291+69del	ENSP00000495664.1:n.1291+65_1291+69del
ENST00000643584.1:c.1228+65_1228+69del	ENSP00000494987.1:n.1228+65_1228+69del
ENST00000646804.1:c.1054+65_1054+69del	ENSP00000493977.1:n.1054+65_1054+69del
ENST00000646932.1:c.1228+65_1228+69del MANE Select	ENSP00000494360.1:n.1228+65_1228+69del
ENST00000647361.1:c.*1021+65_*1021+69del	ENSP00000494607.1:n.*1021+65_*1021+69del
ENST00000378654.8:c.1228+65_1228+69del	ENSP00000367923.3:n.1228+65_1228+69del
ENST00000467222.1:n.536+65_536+69del
ENST00000493152.6:c.79+65_79+69del	ENSP00000489055.1:n.79+65_79+69del
ENST00000634878.1:c.741+65_741+69del
NM_003850.2:c.1228+65_1228+69del	NP_003841.1:n.1228+65_1228+69del
XM_011535292.1:c.991+65_991+69del	XP_011533594.1:n.991+65_991+69del
XM_011535293.1:c.826+65_826+69del	XP_011533595.1:n.826+65_826+69del
NM_003850.3:c.1228+65_1228+69del MANE Select	NP_003841.1:n.1228+65_1228+69del