Canonical Allele Identifier: CA1948368427

Gene: CDKN1C

Linked Data

• dbSNP Id: rs1848933767
• gnomAD v4: 11-2884872-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884876del , CM000673.2:g.2884876del	GRCh38
NC_000011.9:g.2906106del , CM000673.1:g.2906106del	GRCh37
NC_000011.8:g.2862682del	NCBI36
NG_008022.1:g.5893del , LRG_533:g.5893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-739del
ENST00000380725.2:c.255+329del	ENSP00000370101.1:n.255+329del
ENST00000414822.8:c.617del	ENSP00000413720.3:p.Pro206ArgfsTer?
ENST00000430149.3:c.617del	ENSP00000411552.2:p.Pro206ArgfsTer?
ENST00000440480.8:c.584del MANE Select	ENSP00000411257.2:p.Pro195ArgfsTer?
ENST00000647251.1:c.255+329del	ENSP00000496631.1:n.255+329del
ENST00000380725.1:c.255+329del	ENSP00000370101.1:n.255+329del
ENST00000414822.7:c.617del	ENSP00000413720.3:p.Pro206ArgfsTer?
ENST00000430149.2:c.617del	ENSP00000411552.2:p.Pro206ArgfsTer?
ENST00000440480.6:c.584del	ENSP00000411257.2:p.Pro195ArgfsTer?
NM_000076.2:c.617del , LRG_533t1:c.617del	NP_000067.1:p.Pro206ArgfsTer?
NM_001122630.1:c.584del	NP_001116102.1:p.Pro195ArgfsTer?
NM_001122631.1:c.584del	NP_001116103.1:p.Pro195ArgfsTer?
XM_005252732.3:c.255+329del	XP_005252789.1:n.255+329del
NM_001362474.1:c.617del	NP_001349403.1:p.Pro206ArgfsTer?
NM_001362475.1:c.255+329del	NP_001349404.1:n.255+329del
NM_001122630.2:c.584del MANE Select	NP_001116102.1:p.Pro195ArgfsTer?
NM_001122631.2:c.584del	NP_001116103.1:p.Pro195ArgfsTer?
NM_001362474.2:c.617del	NP_001349403.1:p.Pro206ArgfsTer?
NM_001362475.2:c.255+329del	NP_001349404.1:n.255+329del