Canonical Allele Identifier: CA1667372342
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373359_139373386delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGC , CM000668.2:g.139373359_139373386delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGC GRCh38
NC_000006.11:g.139694496_139694523delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGC , CM000668.1:g.139694496_139694523delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGC GRCh37
NC_000006.10:g.139736189_139736216delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGC NCBI36
NG_016169.1:g.6263_6290delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA MANE Select ENSP00000356623.2:p.Ala187=
ENST00000367651.3:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA ENSP00000356623.2:p.Ala187=
ENST00000536159.2:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA ENSP00000442831.1:p.Ala187=
ENST00000537332.2:c.574_601delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA ENSP00000444198.2:p.Ala192=
ENST00000618718.1:c.476+83_477-62delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA ENSP00000479918.1:n.476+83_477-62delinsGCGGGCAGCAGCAACAGCGGCG...
NM_001168388.2:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA NP_001161860.1:p.Ala187=
NM_001168389.2:c.574_601delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA NP_001161861.2:p.Ala192=
NM_006079.4:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA NP_006070.2:p.Ala187=
NM_006079.5:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA MANE Select NP_006070.2:p.Ala187=
NM_001168388.3:c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA NP_001161860.1:p.Ala187=
NM_001168389.3:c.574_601delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA NP_001161861.2:p.Ala192=