Canonical Allele Identifier: CA5822204

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 236970
• ClinVar RCV Id: RCV000229661 ; RCV001270080
• dbSNP Id: rs771450542
• ExAC: 11:2906087 G / GGCCGGT
• gnomAD v2: 11-2906087-G-GGCCGGT
• gnomAD v3: 11-2884857-G-GGCCGGT
• gnomAD v4: 11-2884857-G-GGCCGGT
• MyVariant Identifiers: chr11:g.2906087_2906088insGCCGGT (hg19) ; chr11:g.2884857_2884858insGCCGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884859_2884860insCGGTGC , CM000673.2:g.2884859_2884860insCGGTGC	GRCh38
NC_000011.9:g.2906089_2906090insCGGTGC , CM000673.1:g.2906089_2906090insCGGTGC	GRCh37
NC_000011.8:g.2862665_2862666insCGGTGC	NCBI36
NG_008022.1:g.5908_5909insACCGGC , LRG_533:g.5908_5909insACCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-724_143-723insACCGGC
ENST00000380725.2:c.255+344_255+345insACCGGC	ENSP00000370101.1:n.255+344_255+345insACCGGC
ENST00000414822.8:c.632_633insACCGGC	ENSP00000413720.3:p.Ala211_Pro212insProAla
ENST00000430149.3:c.632_633insACCGGC	ENSP00000411552.2:p.Ala211_Pro212insProAla
ENST00000440480.8:c.599_600insACCGGC MANE Select	ENSP00000411257.2:p.Ala200_Pro201insProAla
ENST00000647251.1:c.255+344_255+345insACCGGC	ENSP00000496631.1:n.255+344_255+345insACCGGC
ENST00000380725.1:c.255+344_255+345insACCGGC	ENSP00000370101.1:n.255+344_255+345insACCGGC
ENST00000414822.7:c.632_633insACCGGC	ENSP00000413720.3:p.Ala211_Pro212insProAla
ENST00000430149.2:c.632_633insACCGGC	ENSP00000411552.2:p.Ala211_Pro212insProAla
ENST00000440480.6:c.599_600insACCGGC	ENSP00000411257.2:p.Ala200_Pro201insProAla
NM_000076.2:c.632_633insACCGGC , LRG_533t1:c.632_633insACCGGC	NP_000067.1:p.Ala211_Pro212insProAla
NM_001122630.1:c.599_600insACCGGC	NP_001116102.1:p.Ala200_Pro201insProAla
NM_001122631.1:c.599_600insACCGGC	NP_001116103.1:p.Ala200_Pro201insProAla
XM_005252732.3:c.255+344_255+345insACCGGC	XP_005252789.1:n.255+344_255+345insACCGGC
NM_001362474.1:c.632_633insACCGGC	NP_001349403.1:p.Ala211_Pro212insProAla
NM_001362475.1:c.255+344_255+345insACCGGC	NP_001349404.1:n.255+344_255+345insACCGGC
NM_001122630.2:c.599_600insACCGGC MANE Select	NP_001116102.1:p.Ala200_Pro201insProAla
NM_001122631.2:c.599_600insACCGGC	NP_001116103.1:p.Ala200_Pro201insProAla
NM_001362474.2:c.632_633insACCGGC	NP_001349403.1:p.Ala211_Pro212insProAla
NM_001362475.2:c.255+344_255+345insACCGGC	NP_001349404.1:n.255+344_255+345insACCGGC