Canonical Allele Identifier: CA2740093583
Gene: CDKN1C HGNC NCBI

Linked Data

ClinVar Variation Id: 3010820
ClinVar RCV Id: RCV003862459

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2884935delinsGGCCGGG , CM000673.2:g.2884935delinsGGCCGGG GRCh38
NC_000011.9:g.2906165delinsGGCCGGG , CM000673.1:g.2906165delinsGGCCGGG GRCh37
NC_000011.8:g.2862741delinsGGCCGGG NCBI36
NG_008022.1:g.5831delinsCCCGGCC , LRG_533:g.5831delinsCCCGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000681969.1:n.142+699delinsCCCGGCC
ENST00000380725.2:c.255+267delinsCCCGGCC ENSP00000370101.1:n.255+267delinsCCCGGCC
ENST00000414822.8:c.555delinsCCCGGCC ENSP00000413720.3:p.Ala185_Pro186insProAla
ENST00000430149.3:c.555delinsCCCGGCC ENSP00000411552.2:p.Ala185_Pro186insProAla
ENST00000440480.8:c.522delinsCCCGGCC MANE Select ENSP00000411257.2:p.Ala174_Pro175insProAla
ENST00000647251.1:c.255+267delinsCCCGGCC ENSP00000496631.1:n.255+267delinsCCCGGCC
ENST00000380725.1:c.255+267delinsCCCGGCC ENSP00000370101.1:n.255+267delinsCCCGGCC
ENST00000414822.7:c.555delinsCCCGGCC ENSP00000413720.3:p.Ala185_Pro186insProAla
ENST00000430149.2:c.555delinsCCCGGCC ENSP00000411552.2:p.Ala185_Pro186insProAla
ENST00000440480.6:c.522delinsCCCGGCC ENSP00000411257.2:p.Ala174_Pro175insProAla
NM_000076.2:c.555delinsCCCGGCC , LRG_533t1:c.555delinsCCCGGCC NP_000067.1:p.Ala185_Pro186insProAla
NM_001122630.1:c.522delinsCCCGGCC NP_001116102.1:p.Ala174_Pro175insProAla
NM_001122631.1:c.522delinsCCCGGCC NP_001116103.1:p.Ala174_Pro175insProAla
XM_005252732.3:c.255+267delinsCCCGGCC XP_005252789.1:n.255+267delinsCCCGGCC
NM_001362474.1:c.555delinsCCCGGCC NP_001349403.1:p.Ala185_Pro186insProAla
NM_001362475.1:c.255+267delinsCCCGGCC NP_001349404.1:n.255+267delinsCCCGGCC
NM_001122630.2:c.522delinsCCCGGCC MANE Select NP_001116102.1:p.Ala174_Pro175insProAla
NM_001122631.2:c.522delinsCCCGGCC NP_001116103.1:p.Ala174_Pro175insProAla
NM_001362474.2:c.555delinsCCCGGCC NP_001349403.1:p.Ala185_Pro186insProAla
NM_001362475.2:c.255+267delinsCCCGGCC NP_001349404.1:n.255+267delinsCCCGGCC