Canonical Allele Identifier: CA1667372346
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373361_139373385delinsCCGCCGCCGCTGTTGCTGCTGCCCG , CM000668.2:g.139373361_139373385delinsCCGCCGCCGCTGTTGCTGCTGCCCG GRCh38
NC_000006.11:g.139694498_139694522delinsCCGCCGCCGCTGTTGCTGCTGCCCG , CM000668.1:g.139694498_139694522delinsCCGCCGCCGCTGTTGCTGCTGCCCG GRCh37
NC_000006.10:g.139736191_139736215delinsCCGCCGCCGCTGTTGCTGCTGCCCG NCBI36
NG_016169.1:g.6264_6288delinsCGGGCAGCAGCAACAGCGGCGGCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG MANE Select ENSP00000356623.2:p.Ala187=
ENST00000367651.3:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG ENSP00000356623.2:p.Ala187=
ENST00000536159.2:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG ENSP00000442831.1:p.Ala187=
ENST00000537332.2:c.575_599delinsCGGGCAGCAGCAACAGCGGCGGCGG ENSP00000444198.2:p.Ala192=
ENST00000618718.1:c.476+84_477-64delinsCGGGCAGCAGCAACAGCGGCGGCGG ENSP00000479918.1:n.476+84_477-64delinsCGGGCAGCAGCAACAGCGGCGG...
NM_001168388.2:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG NP_001161860.1:p.Ala187=
NM_001168389.2:c.575_599delinsCGGGCAGCAGCAACAGCGGCGGCGG NP_001161861.2:p.Ala192=
NM_006079.4:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG NP_006070.2:p.Ala187=
NM_006079.5:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG MANE Select NP_006070.2:p.Ala187=
NM_001168388.3:c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG NP_001161860.1:p.Ala187=
NM_001168389.3:c.575_599delinsCGGGCAGCAGCAACAGCGGCGGCGG NP_001161861.2:p.Ala192=