Canonical Allele Identifier: CA2580082675

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 2156772
• ClinVar RCV Id: RCV003091001

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884957_2884958delinsGC , CM000673.2:g.2884957_2884958delinsGC	GRCh38
NC_000011.9:g.2906187_2906188delinsGC , CM000673.1:g.2906187_2906188delinsGC	GRCh37
NC_000011.8:g.2862763_2862764delinsGC	NCBI36
NG_008022.1:g.5808_5809delinsGC , LRG_533:g.5808_5809delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+676_142+677delinsGC
ENST00000380725.2:c.255+244_255+245delinsGC	ENSP00000370101.1:n.255+244_255+245delinsGC
ENST00000414822.8:c.532_533delinsGC	ENSP00000413720.3:p.Leu178Ala
ENST00000430149.3:c.532_533delinsGC	ENSP00000411552.2:p.Leu178Ala
ENST00000440480.8:c.499_500delinsGC MANE Select	ENSP00000411257.2:p.Leu167Ala
ENST00000647251.1:c.255+244_255+245delinsGC	ENSP00000496631.1:n.255+244_255+245delinsGC
ENST00000380725.1:c.255+244_255+245delinsGC	ENSP00000370101.1:n.255+244_255+245delinsGC
ENST00000414822.7:c.532_533delinsGC	ENSP00000413720.3:p.Leu178Ala
ENST00000430149.2:c.532_533delinsGC	ENSP00000411552.2:p.Leu178Ala
ENST00000440480.6:c.499_500delinsGC	ENSP00000411257.2:p.Leu167Ala
NM_000076.2:c.532_533delinsGC , LRG_533t1:c.532_533delinsGC	NP_000067.1:p.Leu178Ala
NM_001122630.1:c.499_500delinsGC	NP_001116102.1:p.Leu167Ala
NM_001122631.1:c.499_500delinsGC	NP_001116103.1:p.Leu167Ala
XM_005252732.3:c.255+244_255+245delinsGC	XP_005252789.1:n.255+244_255+245delinsGC
NM_001362474.1:c.532_533delinsGC	NP_001349403.1:p.Leu178Ala
NM_001362475.1:c.255+244_255+245delinsGC	NP_001349404.1:n.255+244_255+245delinsGC
NM_001122630.2:c.499_500delinsGC MANE Select	NP_001116102.1:p.Leu167Ala
NM_001122631.2:c.499_500delinsGC	NP_001116103.1:p.Leu167Ala
NM_001362474.2:c.532_533delinsGC	NP_001349403.1:p.Leu178Ala
NM_001362475.2:c.255+244_255+245delinsGC	NP_001349404.1:n.255+244_255+245delinsGC