Canonical Allele Identifier: CA2697548339
Gene: CDKN1C HGNC NCBI

Linked Data

ClinVar Variation Id: 2767640
ClinVar RCV Id: RCV003503409

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2884857_2884922del , CM000673.2:g.2884857_2884922del GRCh38
NC_000011.9:g.2906087_2906152del , CM000673.1:g.2906087_2906152del GRCh37
NC_000011.8:g.2862663_2862728del NCBI36
NG_008022.1:g.5855_5920del , LRG_533:g.5855_5920del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681969.1:n.142+723_143-712del
ENST00000380725.2:c.255+291_255+356del ENSP00000370101.1:n.255+291_255+356del
ENST00000414822.8:c.579_644del ENSP00000413720.3:p.Pro194_Ala215del
ENST00000430149.3:c.579_644del ENSP00000411552.2:p.Pro194_Ala215del
ENST00000440480.8:c.546_611del MANE Select ENSP00000411257.2:p.Pro183_Ala204del
ENST00000647251.1:c.255+291_255+356del ENSP00000496631.1:n.255+291_255+356del
ENST00000380725.1:c.255+291_255+356del ENSP00000370101.1:n.255+291_255+356del
ENST00000414822.7:c.579_644del ENSP00000413720.3:p.Pro194_Ala215del
ENST00000430149.2:c.579_644del ENSP00000411552.2:p.Pro194_Ala215del
ENST00000440480.6:c.546_611del ENSP00000411257.2:p.Pro183_Ala204del
NM_000076.2:c.579_644del , LRG_533t1:c.579_644del NP_000067.1:p.Pro194_Ala215del
NM_001122630.1:c.546_611del NP_001116102.1:p.Pro183_Ala204del
NM_001122631.1:c.546_611del NP_001116103.1:p.Pro183_Ala204del
XM_005252732.3:c.255+291_255+356del XP_005252789.1:n.255+291_255+356del
NM_001362474.1:c.579_644del NP_001349403.1:p.Pro194_Ala215del
NM_001362475.1:c.255+291_255+356del NP_001349404.1:n.255+291_255+356del
NM_001122630.2:c.546_611del MANE Select NP_001116102.1:p.Pro183_Ala204del
NM_001122631.2:c.546_611del NP_001116103.1:p.Pro183_Ala204del
NM_001362474.2:c.579_644del NP_001349403.1:p.Pro194_Ala215del
NM_001362475.2:c.255+291_255+356del NP_001349404.1:n.255+291_255+356del