Canonical Allele Identifier: CA2612014479

Gene: CDKN1C

Linked Data

• gnomAD v4: 11-2884894-GCCGGGGCCGCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884896_2884907del , CM000673.2:g.2884896_2884907del	GRCh38
NC_000011.9:g.2906126_2906137del , CM000673.1:g.2906126_2906137del	GRCh37
NC_000011.8:g.2862702_2862713del	NCBI36
NG_008022.1:g.5860_5871del , LRG_533:g.5860_5871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+728_142+739del
ENST00000380725.2:c.255+296_255+307del	ENSP00000370101.1:n.255+296_255+307del
ENST00000414822.8:c.584_595del	ENSP00000413720.3:p.Val195_Pro198del
ENST00000430149.3:c.584_595del	ENSP00000411552.2:p.Val195_Pro198del
ENST00000440480.8:c.551_562del MANE Select	ENSP00000411257.2:p.Val184_Pro187del
ENST00000647251.1:c.255+296_255+307del	ENSP00000496631.1:n.255+296_255+307del
ENST00000380725.1:c.255+296_255+307del	ENSP00000370101.1:n.255+296_255+307del
ENST00000414822.7:c.584_595del	ENSP00000413720.3:p.Val195_Pro198del
ENST00000430149.2:c.584_595del	ENSP00000411552.2:p.Val195_Pro198del
ENST00000440480.6:c.551_562del	ENSP00000411257.2:p.Val184_Pro187del
NM_000076.2:c.584_595del , LRG_533t1:c.584_595del	NP_000067.1:p.Val195_Pro198del
NM_001122630.1:c.551_562del	NP_001116102.1:p.Val184_Pro187del
NM_001122631.1:c.551_562del	NP_001116103.1:p.Val184_Pro187del
XM_005252732.3:c.255+296_255+307del	XP_005252789.1:n.255+296_255+307del
NM_001362474.1:c.584_595del	NP_001349403.1:p.Val195_Pro198del
NM_001362475.1:c.255+296_255+307del	NP_001349404.1:n.255+296_255+307del
NM_001122630.2:c.551_562del MANE Select	NP_001116102.1:p.Val184_Pro187del
NM_001122631.2:c.551_562del	NP_001116103.1:p.Val184_Pro187del
NM_001362474.2:c.584_595del	NP_001349403.1:p.Val195_Pro198del
NM_001362475.2:c.255+296_255+307del	NP_001349404.1:n.255+296_255+307del