Canonical Allele Identifier: CA609573006

Gene: SUCLA2

Linked Data

• ClinVar Variation Id: 1200382
• ClinVar RCV Id: RCV001565395 ; RCV003771723
• dbSNP Id: rs1425790333
• gnomAD v2: 13-48563032-A-ACTCCTCCT
• gnomAD v3: 13-47988897-A-ACTCCTCCT
• gnomAD v4: 13-47988897-A-ACTCCTCCT
• MyVariant Identifiers: chr13:g.48563032_48563033insCTCCTCCT (hg19) ; chr13:g.47988897_47988898insCTCCTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988898_47988905dup , CM000675.2:g.47988898_47988905dup	GRCh38
NC_000013.10:g.48563033_48563040dup , CM000675.1:g.48563033_48563040dup	GRCh37
NC_000013.9:g.47461034_47461041dup	NCBI36
NG_008241.1:g.17423_17430dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.174_181dup	ENSP00000495674.1:p.Val61GlufsTer4
ENST00000643023.1:c.348_355dup	ENSP00000495664.1:p.Val119GlufsTer4
ENST00000643584.1:c.348_355dup	ENSP00000494987.1:p.Val119GlufsTer4
ENST00000644338.1:c.348_355dup	ENSP00000494723.1:p.Val119GlufsTer4
ENST00000646602.1:c.348_355dup	ENSP00000495250.1:p.Val119GlufsTer4
ENST00000646804.1:c.174_181dup	ENSP00000493977.1:p.Val61GlufsTer4
ENST00000646932.1:c.348_355dup MANE Select	ENSP00000494360.1:p.Val119GlufsTer4
ENST00000647361.1:c.*141_*148dup	ENSP00000494607.1:n.*141_*148dup
ENST00000378654.8:c.348_355dup	ENSP00000367923.3:p.Val119GlufsTer4
ENST00000433022.1:c.90+12275_90+12282dup	ENSP00000415091.1:n.90+12275_90+12282dup
ENST00000434484.5:c.138_145dup	ENSP00000392771.1:p.Val49GlufsTer4
ENST00000470760.2:c.348_355dup	ENSP00000488974.1:p.Val119GlufsTer4
ENST00000497202.6:c.442_449dup	ENSP00000489175.1:n.442_449dup
NM_003850.2:c.348_355dup	NP_003841.1:p.Val119GlufsTer4
XM_011535292.1:c.111_118dup	XP_011533594.1:p.Val40GlufsTer4
XM_011535293.1:c.-55_-48dup	XP_011533595.1:n.-55_-48dup
XR_941688.1:n.392_399dup
NM_003850.3:c.348_355dup MANE Select	NP_003841.1:p.Val119GlufsTer4