Canonical Allele Identifier: CA645552462
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13527

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971066_21971070del , CM000671.2:g.21971066_21971070del GRCh38
NC_000009.11:g.21971065_21971069del , CM000671.1:g.21971065_21971069del GRCh37
NC_000009.10:g.21961065_21961069del NCBI36
NG_007485.1:g.28423_28427del , LRG_11:g.28423_28427del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.290_294del MANE Select ENSP00000307101.5:p.Leu97ProfsTer21
ENST00000404796.3:c.348-58367_348-58363del ENSP00000385916.2:n.348-58367_348-58363de...
ENST00000579755.2:c.333_337del MANE Plus Clinical ENSP00000462950.1:p.Ala112GlyfsTer?
ENST00000304494.9:c.290_294del ENSP00000307101.5:p.Leu97ProfsTer21
ENST00000361570.4:c.332_336del ENSP00000355153.4:p.Leu111ProfsTer21
ENST00000380150.2:n.264_268del
ENST00000380151.3:c.564_568del ENSP00000369496.3:n.564_568del
ENST00000404796.2:c.348-58367_348-58363del ENSP00000385916.2:n.348-58367_348-58363de...
ENST00000479692.2:c.137_141del ENSP00000466887.1:p.Leu46ProfsTer21
ENST00000494262.5:c.137_141del ENSP00000464952.1:p.Leu46ProfsTer21
ENST00000497750.1:c.137_141del ENSP00000468510.1:p.Leu46ProfsTer21
ENST00000498124.1:c.290_294del ENSP00000418915.1:p.Leu97ProfsTer21
ENST00000498628.6:c.137_141del ENSP00000467857.1:p.Leu46ProfsTer21
ENST00000530628.2:c.333_337del ENSP00000432664.2:p.Ala112GlyfsTer?
ENST00000578845.2:c.137_141del ENSP00000467390.1:p.Leu46ProfsTer21
ENST00000579122.1:c.290_294del ENSP00000464202.1:p.Leu97ProfsTer21
ENST00000579755.1:c.333_337del ENSP00000462950.1:p.Ala112GlyfsTer?
NM_000077.4:c.290_294del , LRG_11t1:c.290_294del NP_000068.1:p.Leu97ProfsTer21
NM_001195132.1:c.290_294del NP_001182061.1:p.Leu97ProfsTer21
NM_058195.3:c.333_337del , LRG_11t2:c.333_337del NP_478102.2:p.Ala112GlyfsTer?
NM_058197.4:c.564_568del NP_478104.2:n.564_568del
XM_005251343.1:c.137_141del XP_005251400.1:p.Leu46ProfsTer21
XM_011517675.1:c.290_294del XP_011515977.1:p.Leu97ProfsTer21
XM_011517676.1:c.290_294del XP_011515978.1:p.Leu97ProfsTer21
XM_011517679.1:c.137_141del XP_011515981.1:p.Leu46ProfsTer21
XR_929159.1:n.691_695del
XR_929161.1:n.480_484del
XR_929162.1:n.480_484del
XR_929163.1:n.429_433del
XR_929164.1:n.212_216del
NM_001363763.1:c.137_141del NP_001350692.1:p.Leu46ProfsTer21
XM_011517675.2:c.290_294del XP_011515977.1:p.Leu97ProfsTer21
XM_011517676.2:c.290_294del XP_011515978.1:p.Leu97ProfsTer21
XR_929159.2:n.620_624del
NM_001363763.2:c.137_141del NP_001350692.1:p.Leu46ProfsTer21
NM_000077.5:c.290_294del MANE Select NP_000068.1:p.Leu97ProfsTer21
NM_001195132.2:c.290_294del NP_001182061.1:p.Leu97ProfsTer21
NM_058195.4:c.333_337del MANE Plus Clinical NP_478102.2:p.Ala112GlyfsTer?
NM_058197.5:c.*213_*217del NP_478104.2:n.*213_*217del