Canonical Allele Identifier: CA2578756313
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373432_139373434del , CM000668.2:g.139373432_139373434del GRCh38
NC_000006.11:g.139694569_139694571del , CM000668.1:g.139694569_139694571del GRCh37
NC_000006.10:g.139736262_139736264del NCBI36
NG_016169.1:g.6218_6220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.514_516del MANE Select ENSP00000356623.2:p.Gly172del
ENST00000367651.3:c.514_516del ENSP00000356623.2:p.Gly172del
ENST00000536159.2:c.514_516del ENSP00000442831.1:p.Gly172del
ENST00000537332.2:c.529_531del ENSP00000444198.2:p.Gly177del
ENST00000618718.1:c.476+38_476+40del ENSP00000479918.1:n.476+38_476+40del
NM_001168388.2:c.514_516del NP_001161860.1:p.Gly172del
NM_001168389.2:c.529_531del NP_001161861.2:p.Gly177del
NM_006079.4:c.514_516del NP_006070.2:p.Gly172del
NM_006079.5:c.514_516del MANE Select NP_006070.2:p.Gly172del
NM_001168388.3:c.514_516del NP_001161860.1:p.Gly172del
NM_001168389.3:c.529_531del NP_001161861.2:p.Gly177del