Canonical Allele Identifier: CA1667372376
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373398_139373422delinsAGCTGCTGCCAGAGCCGCCGGGGGT , CM000668.2:g.139373398_139373422delinsAGCTGCTGCCAGAGCCGCCGGGGGT GRCh38
NC_000006.11:g.139694535_139694559delinsAGCTGCTGCCAGAGCCGCCGGGGGT , CM000668.1:g.139694535_139694559delinsAGCTGCTGCCAGAGCCGCCGGGGGT GRCh37
NC_000006.10:g.139736228_139736252delinsAGCTGCTGCCAGAGCCGCCGGGGGT NCBI36
NG_016169.1:g.6227_6251delinsACCCCCGGCGGCTCTGGCAGCAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT MANE Select ENSP00000356623.2:p.Thr175=
ENST00000367651.3:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT ENSP00000356623.2:p.Thr175=
ENST00000536159.2:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT ENSP00000442831.1:p.Thr175=
ENST00000537332.2:c.538_562delinsACCCCCGGCGGCTCTGGCAGCAGCT ENSP00000444198.2:p.Thr180=
ENST00000618718.1:c.476+47_476+71delinsACCCCCGGCGGCTCTGGCAGCAGCT ENSP00000479918.1:n.476+47_476+71delinsACCCCCGGCGGCTCTGGCAGCA...
NM_001168388.2:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT NP_001161860.1:p.Thr175=
NM_001168389.2:c.538_562delinsACCCCCGGCGGCTCTGGCAGCAGCT NP_001161861.2:p.Thr180=
NM_006079.4:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT NP_006070.2:p.Thr175=
NM_006079.5:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT MANE Select NP_006070.2:p.Thr175=
NM_001168388.3:c.523_547delinsACCCCCGGCGGCTCTGGCAGCAGCT NP_001161860.1:p.Thr175=
NM_001168389.3:c.538_562delinsACCCCCGGCGGCTCTGGCAGCAGCT NP_001161861.2:p.Thr180=