Canonical Allele Identifier: CA597432647

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 1528820
• ClinVar RCV Id: RCV002086871
• dbSNP Id: rs759134767
• gnomAD v2: 11-2906090-G-GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC
• gnomAD v3: 11-2884860-G-GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC
• gnomAD v4: 11-2884860-G-GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC
• MyVariant Identifiers: chr11:g.2906108_2906109insGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC (hg19) ; chr11:g.2884878_2884879insGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC , CM000673.2:g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	GRCh38
NC_000011.9:g.2906119_2906120insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC , CM000673.1:g.2906119_2906120insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	GRCh37
NC_000011.8:g.2862695_2862696insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	NCBI36
NG_008022.1:g.5905_5906insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC , LRG_533:g.5905_5906insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
ENST00000380725.2:c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000370101.1:n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCC...
ENST00000414822.8:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000413720.3:p.Pro210_Ala211insAlaProAlaProAlaProAlaProA...
ENST00000430149.3:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000411552.2:p.Pro210_Ala211insAlaProAlaProAlaProAlaProA...
ENST00000440480.8:c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC MANE Select	ENSP00000411257.2:p.Pro199_Ala200insAlaProAlaProAlaProAlaProA...
ENST00000647251.1:c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000496631.1:n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCC...
ENST00000380725.1:c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000370101.1:n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCC...
ENST00000414822.7:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000413720.3:p.Pro210_Ala211insAlaProAlaProAlaProAlaProA...
ENST00000430149.2:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000411552.2:p.Pro210_Ala211insAlaProAlaProAlaProAlaProA...
ENST00000440480.6:c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	ENSP00000411257.2:p.Pro199_Ala200insAlaProAlaProAlaProAlaProA...
NM_000076.2:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC , LRG_533t1:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_000067.1:p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaPro
NM_001122630.1:c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001116102.1:p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaP...
NM_001122631.1:c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001116103.1:p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaP...
XM_005252732.3:c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	XP_005252789.1:n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGG...
NM_001362474.1:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001349403.1:p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaP...
NM_001362475.1:c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001349404.1:n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGG...
NM_001122630.2:c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC MANE Select	NP_001116102.1:p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaP...
NM_001122631.2:c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001116103.1:p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaP...
NM_001362474.2:c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001349403.1:p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaP...
NM_001362475.2:c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC	NP_001349404.1:n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGG...