Canonical Allele Identifier: CA2739276084

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 2779052
• ClinVar RCV Id: RCV003611711

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884918del , CM000673.2:g.2884918del	GRCh38
NC_000011.9:g.2906148del , CM000673.1:g.2906148del	GRCh37
NC_000011.8:g.2862724del	NCBI36
NG_008022.1:g.5851del , LRG_533:g.5851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+719del
ENST00000380725.2:c.255+287del	ENSP00000370101.1:n.255+287del
ENST00000414822.8:c.575del	ENSP00000413720.3:p.Pro192ArgfsTer?
ENST00000430149.3:c.575del	ENSP00000411552.2:p.Pro192ArgfsTer?
ENST00000440480.8:c.542del MANE Select	ENSP00000411257.2:p.Pro181ArgfsTer?
ENST00000647251.1:c.255+287del	ENSP00000496631.1:n.255+287del
ENST00000380725.1:c.255+287del	ENSP00000370101.1:n.255+287del
ENST00000414822.7:c.575del	ENSP00000413720.3:p.Pro192ArgfsTer?
ENST00000430149.2:c.575del	ENSP00000411552.2:p.Pro192ArgfsTer?
ENST00000440480.6:c.542del	ENSP00000411257.2:p.Pro181ArgfsTer?
NM_000076.2:c.575del , LRG_533t1:c.575del	NP_000067.1:p.Pro192ArgfsTer?
NM_001122630.1:c.542del	NP_001116102.1:p.Pro181ArgfsTer?
NM_001122631.1:c.542del	NP_001116103.1:p.Pro181ArgfsTer?
XM_005252732.3:c.255+287del	XP_005252789.1:n.255+287del
NM_001362474.1:c.575del	NP_001349403.1:p.Pro192ArgfsTer?
NM_001362475.1:c.255+287del	NP_001349404.1:n.255+287del
NM_001122630.2:c.542del MANE Select	NP_001116102.1:p.Pro181ArgfsTer?
NM_001122631.2:c.542del	NP_001116103.1:p.Pro181ArgfsTer?
NM_001362474.2:c.575del	NP_001349403.1:p.Pro192ArgfsTer?
NM_001362475.2:c.255+287del	NP_001349404.1:n.255+287del