Canonical Allele Identifier: CA1948368448

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 2727874
• ClinVar RCV Id: RCV003504318
• dbSNP Id: rs1848936253

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884893_2884910del , CM000673.2:g.2884893_2884910del	GRCh38
NC_000011.9:g.2906123_2906140del , CM000673.1:g.2906123_2906140del	GRCh37
NC_000011.8:g.2862699_2862716del	NCBI36
NG_008022.1:g.5860_5877del , LRG_533:g.5860_5877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+728_142+745del
ENST00000380725.2:c.255+296_255+313del	ENSP00000370101.1:n.255+296_255+313del
ENST00000414822.8:c.584_601del	ENSP00000413720.3:p.Val195_Pro200del
ENST00000430149.3:c.584_601del	ENSP00000411552.2:p.Val195_Pro200del
ENST00000440480.8:c.551_568del MANE Select	ENSP00000411257.2:p.Val184_Pro189del
ENST00000647251.1:c.255+296_255+313del	ENSP00000496631.1:n.255+296_255+313del
ENST00000380725.1:c.255+296_255+313del	ENSP00000370101.1:n.255+296_255+313del
ENST00000414822.7:c.584_601del	ENSP00000413720.3:p.Val195_Pro200del
ENST00000430149.2:c.584_601del	ENSP00000411552.2:p.Val195_Pro200del
ENST00000440480.6:c.551_568del	ENSP00000411257.2:p.Val184_Pro189del
NM_000076.2:c.584_601del , LRG_533t1:c.584_601del	NP_000067.1:p.Val195_Pro200del
NM_001122630.1:c.551_568del	NP_001116102.1:p.Val184_Pro189del
NM_001122631.1:c.551_568del	NP_001116103.1:p.Val184_Pro189del
XM_005252732.3:c.255+296_255+313del	XP_005252789.1:n.255+296_255+313del
NM_001362474.1:c.584_601del	NP_001349403.1:p.Val195_Pro200del
NM_001362475.1:c.255+296_255+313del	NP_001349404.1:n.255+296_255+313del
NM_001122630.2:c.551_568del MANE Select	NP_001116102.1:p.Val184_Pro189del
NM_001122631.2:c.551_568del	NP_001116103.1:p.Val184_Pro189del
NM_001362474.2:c.584_601del	NP_001349403.1:p.Val195_Pro200del
NM_001362475.2:c.255+296_255+313del	NP_001349404.1:n.255+296_255+313del