Canonical Allele Identifier: CA464261852
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13507
MyVariant Identifiers: chr9:g.21971008del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971009del , CM000671.2:g.21971009del GRCh38
NC_000009.11:g.21971008del , CM000671.1:g.21971008del GRCh37
NC_000009.10:g.21961008del NCBI36
NG_007485.1:g.28483del , LRG_11:g.28483del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.350del MANE Select ENSP00000307101.5:p.Leu117ArgfsTer29
ENST00000404796.3:c.348-58424del ENSP00000385916.2:n.348-58424del
ENST00000579755.2:c.393del MANE Plus Clinical ENSP00000462950.1:p.Gly132AlafsTer?
ENST00000304494.9:c.350del ENSP00000307101.5:p.Leu117ArgfsTer29
ENST00000361570.4:c.392del ENSP00000355153.4:p.Leu131ArgfsTer29
ENST00000380150.2:n.324del
ENST00000380151.3:c.624del ENSP00000369496.3:n.624del
ENST00000404796.2:c.348-58424del ENSP00000385916.2:n.348-58424del
ENST00000479692.2:c.197del ENSP00000466887.1:p.Leu66ArgfsTer29
ENST00000494262.5:c.197del ENSP00000464952.1:p.Leu66ArgfsTer29
ENST00000497750.1:c.197del ENSP00000468510.1:p.Leu66ArgfsTer29
ENST00000498124.1:c.350del ENSP00000418915.1:p.Leu117ArgfsTer29
ENST00000498628.6:c.197del ENSP00000467857.1:p.Leu66ArgfsTer29
ENST00000530628.2:c.393del ENSP00000432664.2:p.Gly132AlafsTer22
ENST00000578845.2:c.197del ENSP00000467390.1:p.Leu66ArgfsTer29
ENST00000579122.1:c.350del ENSP00000464202.1:p.Leu117ArgfsTer16
ENST00000579755.1:c.393del ENSP00000462950.1:p.Gly132AlafsTer?
NM_000077.4:c.350del , LRG_11t1:c.350del NP_000068.1:p.Leu117ArgfsTer29
NM_001195132.1:c.350del NP_001182061.1:p.Leu117ArgfsTer29
NM_058195.3:c.393del , LRG_11t2:c.393del NP_478102.2:p.Gly132AlafsTer?
NM_058197.4:c.624del NP_478104.2:n.624del
XM_005251343.1:c.197del XP_005251400.1:p.Leu66ArgfsTer29
XM_011517675.1:c.350del XP_011515977.1:p.Leu117ArgfsTer29
XM_011517676.1:c.350del XP_011515978.1:p.Leu117ArgfsTer29
XM_011517679.1:c.197del XP_011515981.1:p.Leu66ArgfsTer29
XR_929159.1:n.751del
XR_929161.1:n.540del
XR_929162.1:n.540del
XR_929163.1:n.489del
XR_929164.1:n.272del
NM_001363763.1:c.197del NP_001350692.1:p.Leu66ArgfsTer29
XM_011517675.2:c.350del XP_011515977.1:p.Leu117ArgfsTer29
XM_011517676.2:c.350del XP_011515978.1:p.Leu117ArgfsTer29
XR_929159.2:n.680del
NM_001363763.2:c.197del NP_001350692.1:p.Leu66ArgfsTer29
NM_000077.5:c.350del MANE Select NP_000068.1:p.Leu117ArgfsTer29
NM_001195132.2:c.350del NP_001182061.1:p.Leu117ArgfsTer29
NM_058195.4:c.393del MANE Plus Clinical NP_478102.2:p.Gly132AlafsTer?
NM_058197.5:c.*273del NP_478104.2:n.*273del