Canonical Allele Identifier: CA1667372406
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373437_139373446delinsAGCCGCCGGG , CM000668.2:g.139373437_139373446delinsAGCCGCCGGG GRCh38
NC_000006.11:g.139694574_139694583delinsAGCCGCCGGG , CM000668.1:g.139694574_139694583delinsAGCCGCCGGG GRCh37
NC_000006.10:g.139736267_139736276delinsAGCCGCCGGG NCBI36
NG_016169.1:g.6203_6212delinsCCCGGCGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.499_508delinsCCCGGCGGCT MANE Select ENSP00000356623.2:p.Pro167=
ENST00000367651.3:c.499_508delinsCCCGGCGGCT ENSP00000356623.2:p.Pro167=
ENST00000536159.2:c.499_508delinsCCCGGCGGCT ENSP00000442831.1:p.Pro167=
ENST00000537332.2:c.514_523delinsCCCGGCGGCT ENSP00000444198.2:p.Pro172=
ENST00000618718.1:c.476+23_476+32delinsCCCGGCGGCT ENSP00000479918.1:n.476+23_476+32delinsCCCGGCGGCT
NM_001168388.2:c.499_508delinsCCCGGCGGCT NP_001161860.1:p.Pro167=
NM_001168389.2:c.514_523delinsCCCGGCGGCT NP_001161861.2:p.Pro172=
NM_006079.4:c.499_508delinsCCCGGCGGCT NP_006070.2:p.Pro167=
NM_006079.5:c.499_508delinsCCCGGCGGCT MANE Select NP_006070.2:p.Pro167=
NM_001168388.3:c.499_508delinsCCCGGCGGCT NP_001161860.1:p.Pro167=
NM_001168389.3:c.514_523delinsCCCGGCGGCT NP_001161861.2:p.Pro172=