Canonical Allele Identifier: CA2622965610

Gene: SUCLA2

Linked Data

• gnomAD v4: 13-47988897-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988903_47988905del , CM000675.2:g.47988903_47988905del	GRCh38
NC_000013.10:g.48563038_48563040del , CM000675.1:g.48563038_48563040del	GRCh37
NC_000013.9:g.47461039_47461041del	NCBI36
NG_008241.1:g.17428_17430del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.179_181del	ENSP00000495674.1:p.Gly60del
ENST00000643023.1:c.353_355del	ENSP00000495664.1:p.Gly118del
ENST00000643584.1:c.353_355del	ENSP00000494987.1:p.Gly118del
ENST00000644338.1:c.353_355del	ENSP00000494723.1:p.Gly118del
ENST00000646602.1:c.353_355del	ENSP00000495250.1:p.Gly118del
ENST00000646804.1:c.179_181del	ENSP00000493977.1:p.Gly60del
ENST00000646932.1:c.353_355del MANE Select	ENSP00000494360.1:p.Gly118del
ENST00000647361.1:c.*146_*148del	ENSP00000494607.1:n.*146_*148del
ENST00000378654.8:c.353_355del	ENSP00000367923.3:p.Gly118del
ENST00000433022.1:c.90+12280_90+12282del	ENSP00000415091.1:n.90+12280_90+12282del
ENST00000434484.5:c.143_145del	ENSP00000392771.1:p.Gly48del
ENST00000470760.2:c.353_355del	ENSP00000488974.1:p.Gly118del
ENST00000497202.6:c.447_449del	ENSP00000489175.1:n.447_449del
NM_003850.2:c.353_355del	NP_003841.1:p.Gly118del
XM_011535292.1:c.116_118del	XP_011533594.1:p.Gly39del
XM_011535293.1:c.-50_-48del	XP_011533595.1:n.-50_-48del
XR_941688.1:n.397_399del
NM_003850.3:c.353_355del MANE Select	NP_003841.1:p.Gly118del