Canonical Allele Identifier: CA2612014981

Gene: CDKN1C

Linked Data

• gnomAD v4: 11-2884962-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884963_2884964insGGG , CM000673.2:g.2884963_2884964insGGG	GRCh38
NC_000011.9:g.2906193_2906194insGGG , CM000673.1:g.2906193_2906194insGGG	GRCh37
NC_000011.8:g.2862769_2862770insGGG	NCBI36
NG_008022.1:g.5803_5804insCCC , LRG_533:g.5803_5804insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+671_142+672insCCC
ENST00000380725.2:c.255+239_255+240insCCC	ENSP00000370101.1:n.255+239_255+240insCCC
ENST00000414822.8:c.527_528insCCC	ENSP00000413720.3:p.Ala176_Val177insPro
ENST00000430149.3:c.527_528insCCC	ENSP00000411552.2:p.Ala176_Val177insPro
ENST00000440480.8:c.494_495insCCC MANE Select	ENSP00000411257.2:p.Ala165_Val166insPro
ENST00000647251.1:c.255+239_255+240insCCC	ENSP00000496631.1:n.255+239_255+240insCCC
ENST00000380725.1:c.255+239_255+240insCCC	ENSP00000370101.1:n.255+239_255+240insCCC
ENST00000414822.7:c.527_528insCCC	ENSP00000413720.3:p.Ala176_Val177insPro
ENST00000430149.2:c.527_528insCCC	ENSP00000411552.2:p.Ala176_Val177insPro
ENST00000440480.6:c.494_495insCCC	ENSP00000411257.2:p.Ala165_Val166insPro
NM_000076.2:c.527_528insCCC , LRG_533t1:c.527_528insCCC	NP_000067.1:p.Ala176_Val177insPro
NM_001122630.1:c.494_495insCCC	NP_001116102.1:p.Ala165_Val166insPro
NM_001122631.1:c.494_495insCCC	NP_001116103.1:p.Ala165_Val166insPro
XM_005252732.3:c.255+239_255+240insCCC	XP_005252789.1:n.255+239_255+240insCCC
NM_001362474.1:c.527_528insCCC	NP_001349403.1:p.Ala176_Val177insPro
NM_001362475.1:c.255+239_255+240insCCC	NP_001349404.1:n.255+239_255+240insCCC
NM_001122630.2:c.494_495insCCC MANE Select	NP_001116102.1:p.Ala165_Val166insPro
NM_001122631.2:c.494_495insCCC	NP_001116103.1:p.Ala165_Val166insPro
NM_001362474.2:c.527_528insCCC	NP_001349403.1:p.Ala176_Val177insPro
NM_001362475.2:c.255+239_255+240insCCC	NP_001349404.1:n.255+239_255+240insCCC