Canonical Allele Identifier: CA254539
Gene: CDKN1C HGNC NCBI

Linked Data

ClinVar Variation Id: 8748
ClinVar RCV Id: RCV000009289
dbSNP Id: rs387906399
MyVariant Identifiers: chr11:g.2906409_2906410delinsC (hg19) chr11:g.2885179_2885180delinsC (hg38)
PubMed: PMID:9341892
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2885179_2885180delinsC , CM000673.2:g.2885179_2885180delinsC GRCh38
NC_000011.9:g.2906409_2906410delinsC , CM000673.1:g.2906409_2906410delinsC GRCh37
NC_000011.8:g.2862985_2862986delinsC NCBI36
NG_008022.1:g.5586_5587delinsG , LRG_533:g.5586_5587delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000681969.1:n.142+454_142+455delinsG
ENST00000380725.2:c.255+22_255+23delinsG ENSP00000370101.1:n.255+22_255+23delinsG
ENST00000414822.8:c.310_311delinsG ENSP00000413720.3:p.Leu104GlyfsTer?
ENST00000430149.3:c.310_311delinsG ENSP00000411552.2:p.Leu104GlyfsTer?
ENST00000440480.8:c.277_278delinsG MANE Select ENSP00000411257.2:p.Leu93GlyfsTer?
ENST00000647251.1:c.255+22_255+23delinsG ENSP00000496631.1:n.255+22_255+23delinsG
ENST00000380725.1:c.255+22_255+23delinsG ENSP00000370101.1:n.255+22_255+23delinsG
ENST00000414822.7:c.310_311delinsG ENSP00000413720.3:p.Leu104GlyfsTer?
ENST00000430149.2:c.310_311delinsG ENSP00000411552.2:p.Leu104GlyfsTer?
ENST00000440480.6:c.277_278delinsG ENSP00000411257.2:p.Leu93GlyfsTer?
NM_000076.2:c.310_311delinsG , LRG_533t1:c.310_311delinsG NP_000067.1:p.Leu104GlyfsTer?
NM_001122630.1:c.277_278delinsG NP_001116102.1:p.Leu93GlyfsTer?
NM_001122631.1:c.277_278delinsG NP_001116103.1:p.Leu93GlyfsTer?
XM_005252732.3:c.255+22_255+23delinsG XP_005252789.1:n.255+22_255+23delinsG
NM_001362474.1:c.310_311delinsG NP_001349403.1:p.Leu104GlyfsTer?
NM_001362475.1:c.255+22_255+23delinsG NP_001349404.1:n.255+22_255+23delinsG
NM_001122630.2:c.277_278delinsG MANE Select NP_001116102.1:p.Leu93GlyfsTer?
NM_001122631.2:c.277_278delinsG NP_001116103.1:p.Leu93GlyfsTer?
NM_001362474.2:c.310_311delinsG NP_001349403.1:p.Leu104GlyfsTer?
NM_001362475.2:c.255+22_255+23delinsG NP_001349404.1:n.255+22_255+23delinsG
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