Canonical Allele Identifier: CA2842027312

Gene: CDKN1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885407dup , CM000673.2:g.2885407dup	GRCh38
NC_000011.9:g.2906637dup , CM000673.1:g.2906637dup	GRCh37
NC_000011.8:g.2863213dup	NCBI36
NG_008022.1:g.5359dup , LRG_533:g.5359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+227dup
ENST00000380725.2:c.50dup	ENSP00000370101.1:p.Ser17ArgfsTer?
ENST00000414822.8:c.83dup	ENSP00000413720.3:p.Ser28ArgfsTer?
ENST00000430149.3:c.83dup	ENSP00000411552.2:p.Ser28ArgfsTer?
ENST00000440480.8:c.50dup MANE Select	ENSP00000411257.2:p.Ser17ArgfsTer?
ENST00000647251.1:c.50dup	ENSP00000496631.1:p.Ser17ArgfsTer?
ENST00000380725.1:c.50dup	ENSP00000370101.1:p.Ser17ArgfsTer?
ENST00000414822.7:c.83dup	ENSP00000413720.3:p.Ser28ArgfsTer?
ENST00000430149.2:c.83dup	ENSP00000411552.2:p.Ser28ArgfsTer?
ENST00000440480.6:c.50dup	ENSP00000411257.2:p.Ser17ArgfsTer?
NM_000076.2:c.83dup , LRG_533t1:c.83dup	NP_000067.1:p.Ser28ArgfsTer?
NM_001122630.1:c.50dup	NP_001116102.1:p.Ser17ArgfsTer?
NM_001122631.1:c.50dup	NP_001116103.1:p.Ser17ArgfsTer?
XM_005252732.3:c.50dup	XP_005252789.1:p.Ser17ArgfsTer?
NM_001362474.1:c.83dup	NP_001349403.1:p.Ser28ArgfsTer?
NM_001362475.1:c.50dup	NP_001349404.1:p.Ser17ArgfsTer?
NM_001122630.2:c.50dup MANE Select	NP_001116102.1:p.Ser17ArgfsTer?
NM_001122631.2:c.50dup	NP_001116103.1:p.Ser17ArgfsTer?
NM_001362474.2:c.83dup	NP_001349403.1:p.Ser28ArgfsTer?
NM_001362475.2:c.50dup	NP_001349404.1:p.Ser17ArgfsTer?