Canonical Allele Identifier: CA2575412493

Gene: SUCLA2

Linked Data

• gnomAD v4: 13-47988892-TCTTCACTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988895_47988902del , CM000675.2:g.47988895_47988902del	GRCh38
NC_000013.10:g.48563030_48563037del , CM000675.1:g.48563030_48563037del	GRCh37
NC_000013.9:g.47461031_47461038del	NCBI36
NG_008241.1:g.17428_17435del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.179_186del	ENSP00000495674.1:p.Gly60AspfsTer?
ENST00000643023.1:c.353_360del	ENSP00000495664.1:p.Gly118AspfsTer?
ENST00000643584.1:c.353_360del	ENSP00000494987.1:p.Gly118AspfsTer?
ENST00000644338.1:c.353_360del	ENSP00000494723.1:p.Gly118AspfsTer?
ENST00000646602.1:c.353_360del	ENSP00000495250.1:p.Gly118AspfsTer?
ENST00000646804.1:c.179_186del	ENSP00000493977.1:p.Gly60AspfsTer?
ENST00000646932.1:c.353_360del MANE Select	ENSP00000494360.1:p.Gly118AspfsTer?
ENST00000647361.1:c.*146_*153del	ENSP00000494607.1:n.*146_*153del
ENST00000378654.8:c.353_360del	ENSP00000367923.3:p.Gly118AspfsTer?
ENST00000433022.1:c.90+12280_90+12287del	ENSP00000415091.1:n.90+12280_90+12287del
ENST00000434484.5:c.143_150del	ENSP00000392771.1:p.Gly48AspfsTer?
ENST00000470760.2:c.353_360del	ENSP00000488974.1:p.Gly118AspfsTer?
ENST00000497202.6:c.447_454del	ENSP00000489175.1:n.447_454del
NM_003850.2:c.353_360del	NP_003841.1:p.Gly118AspfsTer?
XM_011535292.1:c.116_123del	XP_011533594.1:p.Gly39AspfsTer?
XM_011535293.1:c.-50_-43del	XP_011533595.1:n.-50_-43del
XR_941688.1:n.397_404del
NM_003850.3:c.353_360del MANE Select	NP_003841.1:p.Gly118AspfsTer?