Canonical Allele Identifier: CA658797574

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 524721
• ClinVar RCV Id: RCV000628572 ; RCV003424199
• dbSNP Id: rs1380480846
• gnomAD v3: 11-2884848-C-CGGGGCCGGGGCG
• gnomAD v4: 11-2884848-C-CGGGGCCGGGGCG
• MyVariant Identifiers: chr11:g.2906079_2906090dup (hg19) ; chr11:g.2884849_2884860dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884860_2884871dup , CM000673.2:g.2884860_2884871dup	GRCh38
NC_000011.9:g.2906090_2906101dup , CM000673.1:g.2906090_2906101dup	GRCh37
NC_000011.8:g.2862666_2862677dup	NCBI36
NG_008022.1:g.5906_5917dup , LRG_533:g.5906_5917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-726_143-715dup
ENST00000380725.2:c.255+342_255+353dup	ENSP00000370101.1:n.255+342_255+353dup
ENST00000414822.8:c.630_641dup	ENSP00000413720.3:p.Pro214_Ala215insAlaProAlaPro
ENST00000430149.3:c.630_641dup	ENSP00000411552.2:p.Pro214_Ala215insAlaProAlaPro
ENST00000440480.8:c.597_608dup MANE Select	ENSP00000411257.2:p.Pro203_Ala204insAlaProAlaPro
ENST00000647251.1:c.255+342_255+353dup	ENSP00000496631.1:n.255+342_255+353dup
ENST00000380725.1:c.255+342_255+353dup	ENSP00000370101.1:n.255+342_255+353dup
ENST00000414822.7:c.630_641dup	ENSP00000413720.3:p.Pro214_Ala215insAlaProAlaPro
ENST00000430149.2:c.630_641dup	ENSP00000411552.2:p.Pro214_Ala215insAlaProAlaPro
ENST00000440480.6:c.597_608dup	ENSP00000411257.2:p.Pro203_Ala204insAlaProAlaPro
NM_000076.2:c.630_641dup , LRG_533t1:c.630_641dup	NP_000067.1:p.Pro214_Ala215insAlaProAlaPro
NM_001122630.1:c.597_608dup	NP_001116102.1:p.Pro203_Ala204insAlaProAlaPro
NM_001122631.1:c.597_608dup	NP_001116103.1:p.Pro203_Ala204insAlaProAlaPro
XM_005252732.3:c.255+342_255+353dup	XP_005252789.1:n.255+342_255+353dup
NM_001362474.1:c.630_641dup	NP_001349403.1:p.Pro214_Ala215insAlaProAlaPro
NM_001362475.1:c.255+342_255+353dup	NP_001349404.1:n.255+342_255+353dup
NM_001122630.2:c.597_608dup MANE Select	NP_001116102.1:p.Pro203_Ala204insAlaProAlaPro
NM_001122631.2:c.597_608dup	NP_001116103.1:p.Pro203_Ala204insAlaProAlaPro
NM_001362474.2:c.630_641dup	NP_001349403.1:p.Pro214_Ala215insAlaProAlaPro
NM_001362475.2:c.255+342_255+353dup	NP_001349404.1:n.255+342_255+353dup