Canonical Allele Identifier: CA2573145984

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 1612242
• ClinVar RCV Id: RCV002168486
• dbSNP Id: rs2133784373

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884994_2885017del , CM000673.2:g.2884994_2885017del	GRCh38
NC_000011.9:g.2906224_2906247del , CM000673.1:g.2906224_2906247del	GRCh37
NC_000011.8:g.2862800_2862823del	NCBI36
NG_008022.1:g.5753_5776del , LRG_533:g.5753_5776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+621_142+644del
ENST00000380725.2:c.255+189_255+212del	ENSP00000370101.1:n.255+189_255+212del
ENST00000414822.8:c.477_500del	ENSP00000413720.3:p.Pro160_Ala167del
ENST00000430149.3:c.477_500del	ENSP00000411552.2:p.Pro160_Ala167del
ENST00000440480.8:c.444_467del MANE Select	ENSP00000411257.2:p.Pro149_Ala156del
ENST00000647251.1:c.255+189_255+212del	ENSP00000496631.1:n.255+189_255+212del
ENST00000380725.1:c.255+189_255+212del	ENSP00000370101.1:n.255+189_255+212del
ENST00000414822.7:c.477_500del	ENSP00000413720.3:p.Pro160_Ala167del
ENST00000430149.2:c.477_500del	ENSP00000411552.2:p.Pro160_Ala167del
ENST00000440480.6:c.444_467del	ENSP00000411257.2:p.Pro149_Ala156del
NM_000076.2:c.477_500del , LRG_533t1:c.477_500del	NP_000067.1:p.Pro160_Ala167del
NM_001122630.1:c.444_467del	NP_001116102.1:p.Pro149_Ala156del
NM_001122631.1:c.444_467del	NP_001116103.1:p.Pro149_Ala156del
XM_005252732.3:c.255+189_255+212del	XP_005252789.1:n.255+189_255+212del
NM_001362474.1:c.477_500del	NP_001349403.1:p.Pro160_Ala167del
NM_001362475.1:c.255+189_255+212del	NP_001349404.1:n.255+189_255+212del
NM_001122630.2:c.444_467del MANE Select	NP_001116102.1:p.Pro149_Ala156del
NM_001122631.2:c.444_467del	NP_001116103.1:p.Pro149_Ala156del
NM_001362474.2:c.477_500del	NP_001349403.1:p.Pro160_Ala167del
NM_001362475.2:c.255+189_255+212del	NP_001349404.1:n.255+189_255+212del