Canonical Allele Identifier: CA1667372350
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373365_139373371delinsCGCCGCT , CM000668.2:g.139373365_139373371delinsCGCCGCT GRCh38
NC_000006.11:g.139694502_139694508delinsCGCCGCT , CM000668.1:g.139694502_139694508delinsCGCCGCT GRCh37
NC_000006.10:g.139736195_139736201delinsCGCCGCT NCBI36
NG_016169.1:g.6278_6284delinsAGCGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.574_580delinsAGCGGCG MANE Select ENSP00000356623.2:p.Ser192=
ENST00000367651.3:c.574_580delinsAGCGGCG ENSP00000356623.2:p.Ser192=
ENST00000536159.2:c.574_580delinsAGCGGCG ENSP00000442831.1:p.Ser192=
ENST00000537332.2:c.589_595delinsAGCGGCG ENSP00000444198.2:p.Ser197=
ENST00000618718.1:c.477-74_477-68delinsAGCGGCG ENSP00000479918.1:n.477-74_477-68delinsAGCGGCG
NM_001168388.2:c.574_580delinsAGCGGCG NP_001161860.1:p.Ser192=
NM_001168389.2:c.589_595delinsAGCGGCG NP_001161861.2:p.Ser197=
NM_006079.4:c.574_580delinsAGCGGCG NP_006070.2:p.Ser192=
NM_006079.5:c.574_580delinsAGCGGCG MANE Select NP_006070.2:p.Ser192=
NM_001168388.3:c.574_580delinsAGCGGCG NP_001161860.1:p.Ser192=
NM_001168389.3:c.589_595delinsAGCGGCG NP_001161861.2:p.Ser197=