Canonical Allele Identifier: CA4025560
Community Standard Title: NM_006079.5(CITED2):c.593_598del (p.Ser198_Gly199del)
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373359_139373364del , CM000668.2:g.139373359_139373364del GRCh38
NC_000006.11:g.139694496_139694501del , CM000668.1:g.139694496_139694501del GRCh37
NC_000006.10:g.139736189_139736194del NCBI36
NG_016169.1:g.6297_6302del

Transcript Alleles

HGVS Amino-acid Change
NM_006079.5:c.593_598del MANE Select NP_006070.2:p.Ser198_Gly199del
ENST00000367651.4:c.593_598del MANE Select ENSP00000356623.2:p.Ser198_Gly199del
NM_001168388.2:c.593_598del NP_001161860.1:p.Ser198_Gly199del
NM_001168388.3:c.593_598del NP_001161860.1:p.Ser198_Gly199del
NM_001168389.2:c.608_613del NP_001161861.2:p.Ser203_Gly204del
NM_001168389.3:c.608_613del NP_001161861.2:p.Ser203_Gly204del
NM_006079.4:c.593_598del NP_006070.2:p.Ser198_Gly199del
ENST00000367651.3:c.593_598del ENSP00000356623.2:p.Ser198_Gly199del
ENST00000536159.2:c.593_598del ENSP00000442831.1:p.Ser198_Gly199del
ENST00000537332.2:c.608_613del ENSP00000444198.2:p.Ser203_Gly204del
ENST00000618718.1:c.477-55_477-50del ENSP00000479918.1:n.477-55_477-50del