Canonical Allele Identifier: CA5822122

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 254879
• ClinVar RCV Id: RCV001579286 ; RCV001651096 ; RCV001579285 ; RCV003891828
• dbSNP Id: rs34289096
• ExAC: 11:2905204 G / GC
• gnomAD v2: 11-2905204-G-GC
• gnomAD v3: 11-2883974-G-GC
• gnomAD v4: 11-2883974-G-GC
• MyVariant Identifiers: chr11:g.2905205dupC (hg19) ; chr11:g.2905205_2905206insC (hg19) ; chr11:g.2905204_2905205insC (hg19) ; chr11:g.2883975dupC (hg38) ; chr11:g.2883974_2883975insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2883981dup , CM000673.2:g.2883981dup	GRCh38
NC_000011.9:g.2905211dup , CM000673.1:g.2905211dup	GRCh37
NC_000011.8:g.2861787dup	NCBI36
NG_008022.1:g.6791dup , LRG_533:g.6791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.278+24dup
ENST00000380725.2:c.391+24dup	ENSP00000370101.1:n.391+24dup
ENST00000414822.8:c.*5+24dup	ENSP00000413720.3:n.*5+24dup
ENST00000430149.3:c.*5+24dup	ENSP00000411552.2:n.*5+24dup
ENST00000440480.8:c.*5+24dup MANE Select	ENSP00000411257.2:n.*5+24dup
ENST00000647251.1:c.391+24dup	ENSP00000496631.1:n.391+24dup
ENST00000380725.1:c.391+24dup	ENSP00000370101.1:n.391+24dup
ENST00000414822.7:c.*5+24dup	ENSP00000413720.3:n.*5+24dup
ENST00000430149.2:c.*5+24dup	ENSP00000411552.2:n.*5+24dup
ENST00000440480.6:c.*5+24dup	ENSP00000411257.2:n.*5+24dup
ENST00000471157.2:n.703+24dup
NM_000076.2:c.*5+24dup , LRG_533t1:c.*5+24dup	NP_000067.1:n.*5+24dup
NM_001122630.1:c.*5+24dup	NP_001116102.1:n.*5+24dup
NM_001122631.1:c.*5+24dup	NP_001116103.1:n.*5+24dup
XM_005252732.3:c.391+24dup	XP_005252789.1:n.391+24dup
NM_001362474.1:c.*5+24dup	NP_001349403.1:n.*5+24dup
NM_001362475.1:c.391+24dup	NP_001349404.1:n.391+24dup
NM_001122630.2:c.*5+24dup MANE Select	NP_001116102.1:n.*5+24dup
NM_001122631.2:c.*5+24dup	NP_001116103.1:n.*5+24dup
NM_001362474.2:c.*5+24dup	NP_001349403.1:n.*5+24dup
NM_001362475.2:c.391+24dup	NP_001349404.1:n.391+24dup