Canonical Allele Identifier: CA675284205

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 701029
• ClinVar RCV Id: RCV000869422
• dbSNP Id: rs759134767
• gnomAD v3: 11-2884860-G-GGGGGCCGGGGCC
• gnomAD v4: 11-2884860-G-GGGGGCCGGGGCC
• MyVariant Identifiers: chr11:g.2906090_2906091insGGGGCCGGGGCC (hg19) ; chr11:g.2884860_2884861insGGGGCCGGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884878_2884889dup , CM000673.2:g.2884878_2884889dup	GRCh38
NC_000011.9:g.2906108_2906119dup , CM000673.1:g.2906108_2906119dup	GRCh37
NC_000011.8:g.2862684_2862695dup	NCBI36
NG_008022.1:g.5894_5905dup , LRG_533:g.5894_5905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-738_143-727dup
ENST00000380725.2:c.255+330_255+341dup	ENSP00000370101.1:n.255+330_255+341dup
ENST00000414822.8:c.618_629dup	ENSP00000413720.3:p.Pro210_Ala211insAlaProAlaPro
ENST00000430149.3:c.618_629dup	ENSP00000411552.2:p.Pro210_Ala211insAlaProAlaPro
ENST00000440480.8:c.585_596dup MANE Select	ENSP00000411257.2:p.Pro199_Ala200insAlaProAlaPro
ENST00000647251.1:c.255+330_255+341dup	ENSP00000496631.1:n.255+330_255+341dup
ENST00000380725.1:c.255+330_255+341dup	ENSP00000370101.1:n.255+330_255+341dup
ENST00000414822.7:c.618_629dup	ENSP00000413720.3:p.Pro210_Ala211insAlaProAlaPro
ENST00000430149.2:c.618_629dup	ENSP00000411552.2:p.Pro210_Ala211insAlaProAlaPro
ENST00000440480.6:c.585_596dup	ENSP00000411257.2:p.Pro199_Ala200insAlaProAlaPro
NM_000076.2:c.618_629dup , LRG_533t1:c.618_629dup	NP_000067.1:p.Pro210_Ala211insAlaProAlaPro
NM_001122630.1:c.585_596dup	NP_001116102.1:p.Pro199_Ala200insAlaProAlaPro
NM_001122631.1:c.585_596dup	NP_001116103.1:p.Pro199_Ala200insAlaProAlaPro
XM_005252732.3:c.255+330_255+341dup	XP_005252789.1:n.255+330_255+341dup
NM_001362474.1:c.618_629dup	NP_001349403.1:p.Pro210_Ala211insAlaProAlaPro
NM_001362475.1:c.255+330_255+341dup	NP_001349404.1:n.255+330_255+341dup
NM_001122630.2:c.585_596dup MANE Select	NP_001116102.1:p.Pro199_Ala200insAlaProAlaPro
NM_001122631.2:c.585_596dup	NP_001116103.1:p.Pro199_Ala200insAlaProAlaPro
NM_001362474.2:c.618_629dup	NP_001349403.1:p.Pro210_Ala211insAlaProAlaPro
NM_001362475.2:c.255+330_255+341dup	NP_001349404.1:n.255+330_255+341dup