Canonical Allele Identifier: CA2622965611

Gene: SUCLA2

Linked Data

• gnomAD v4: 13-47988953-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988954del , CM000675.2:g.47988954del	GRCh38
NC_000013.10:g.48563089del , CM000675.1:g.48563089del	GRCh37
NC_000013.9:g.47461090del	NCBI36
NG_008241.1:g.17374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.125del	ENSP00000495674.1:p.Gln42ArgfsTer3
ENST00000643023.1:c.299del	ENSP00000495664.1:p.Gln100ArgfsTer3
ENST00000643584.1:c.299del	ENSP00000494987.1:p.Gln100ArgfsTer3
ENST00000644338.1:c.299del	ENSP00000494723.1:p.Gln100ArgfsTer3
ENST00000646602.1:c.299del	ENSP00000495250.1:p.Gln100ArgfsTer3
ENST00000646804.1:c.125del	ENSP00000493977.1:p.Gln42ArgfsTer3
ENST00000646932.1:c.299del MANE Select	ENSP00000494360.1:p.Gln100ArgfsTer3
ENST00000647361.1:c.*92del	ENSP00000494607.1:n.*92del
ENST00000378654.8:c.299del	ENSP00000367923.3:p.Gln100ArgfsTer3
ENST00000433022.1:c.90+12226del	ENSP00000415091.1:n.90+12226del
ENST00000434484.5:c.89del	ENSP00000392771.1:p.Gln30ArgfsTer3
ENST00000470760.2:c.299del	ENSP00000488974.1:p.Gln100ArgfsTer3
ENST00000497202.6:c.393del	ENSP00000489175.1:p.Gly132ValfsTer?
NM_003850.2:c.299del	NP_003841.1:p.Gln100ArgfsTer3
XM_011535292.1:c.62del	XP_011533594.1:p.Gln21ArgfsTer3
XM_011535293.1:c.-104del	XP_011533595.1:n.-104del
XR_941688.1:n.343del
NM_003850.3:c.299del MANE Select	NP_003841.1:p.Gln100ArgfsTer3