Canonical Allele Identifier: CA658797573

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 524723
• ClinVar RCV Id: RCV000628574
• dbSNP Id: rs878853638
• gnomAD v3: 11-2884840-T-TCCGGGGCCGGGGCCGGGGCGGGGGCCGGGG
• gnomAD v4: 11-2884840-T-TCCGGGGCCGGGGCCGGGGCGGGGGCCGGGG
• MyVariant Identifiers: chr11:g.2906071_2906100dup (hg19) ; chr11:g.2884841_2884870dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884860_2884889dup , CM000673.2:g.2884860_2884889dup	GRCh38
NC_000011.9:g.2906090_2906119dup , CM000673.1:g.2906090_2906119dup	GRCh37
NC_000011.8:g.2862666_2862695dup	NCBI36
NG_008022.1:g.5896_5925dup , LRG_533:g.5896_5925dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681969.1:n.143-736_143-707dup
ENST00000380725.2:c.255+332_255+361dup	ENSP00000370101.1:n.255+332_255+361dup
ENST00000414822.8:c.620_649dup	ENSP00000413720.3:p.Pro216_Asp217insAlaProAlaProAlaProAlaProA...
ENST00000430149.3:c.620_649dup	ENSP00000411552.2:p.Pro216_Asp217insAlaProAlaProAlaProAlaProA...
ENST00000440480.8:c.587_616dup MANE Select	ENSP00000411257.2:p.Pro205_Asp206insAlaProAlaProAlaProAlaProA...
ENST00000647251.1:c.255+332_255+361dup	ENSP00000496631.1:n.255+332_255+361dup
ENST00000380725.1:c.255+332_255+361dup	ENSP00000370101.1:n.255+332_255+361dup
ENST00000414822.7:c.620_649dup	ENSP00000413720.3:p.Pro216_Asp217insAlaProAlaProAlaProAlaProA...
ENST00000430149.2:c.620_649dup	ENSP00000411552.2:p.Pro216_Asp217insAlaProAlaProAlaProAlaProA...
ENST00000440480.6:c.587_616dup	ENSP00000411257.2:p.Pro205_Asp206insAlaProAlaProAlaProAlaProA...
NM_000076.2:c.620_649dup , LRG_533t1:c.620_649dup	NP_000067.1:p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaPro
NM_001122630.1:c.587_616dup	NP_001116102.1:p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaP...
NM_001122631.1:c.587_616dup	NP_001116103.1:p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaP...
XM_005252732.3:c.255+332_255+361dup	XP_005252789.1:n.255+332_255+361dup
NM_001362474.1:c.620_649dup	NP_001349403.1:p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaP...
NM_001362475.1:c.255+332_255+361dup	NP_001349404.1:n.255+332_255+361dup
NM_001122630.2:c.587_616dup MANE Select	NP_001116102.1:p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaP...
NM_001122631.2:c.587_616dup	NP_001116103.1:p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaP...
NM_001362474.2:c.620_649dup	NP_001349403.1:p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaP...
NM_001362475.2:c.255+332_255+361dup	NP_001349404.1:n.255+332_255+361dup