Canonical Allele Identifier: CA2578756312
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373392_139373403del , CM000668.2:g.139373392_139373403del GRCh38
NC_000006.11:g.139694529_139694540del , CM000668.1:g.139694529_139694540del GRCh37
NC_000006.10:g.139736222_139736233del NCBI36
NG_016169.1:g.6248_6259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.544_555del MANE Select ENSP00000356623.2:p.Ser182_Gly185del
ENST00000367651.3:c.544_555del ENSP00000356623.2:p.Ser182_Gly185del
ENST00000536159.2:c.544_555del ENSP00000442831.1:p.Ser182_Gly185del
ENST00000537332.2:c.559_570del ENSP00000444198.2:p.Ser187_Gly190del
ENST00000618718.1:c.476+68_476+79del ENSP00000479918.1:n.476+68_476+79del
NM_001168388.2:c.544_555del NP_001161860.1:p.Ser182_Gly185del
NM_001168389.2:c.559_570del NP_001161861.2:p.Ser187_Gly190del
NM_006079.4:c.544_555del NP_006070.2:p.Ser182_Gly185del
NM_006079.5:c.544_555del MANE Select NP_006070.2:p.Ser182_Gly185del
NM_001168388.3:c.544_555del NP_001161860.1:p.Ser182_Gly185del
NM_001168389.3:c.559_570del NP_001161861.2:p.Ser187_Gly190del