Canonical Allele Identifier: CA2573143664
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1678127
ClinVar RCV Id: RCV002224718
dbSNP Id: rs2131096806

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971209_21971224del , CM000671.2:g.21971209_21971224del GRCh38
NC_000009.11:g.21971208_21971223del , CM000671.1:g.21971208_21971223del GRCh37
NC_000009.10:g.21961208_21961223del NCBI36
NG_007485.1:g.28268_28283del , LRG_11:g.28268_28283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.151-16_151-1del MANE Select ENSP00000307101.5:n.151-16_151-1del
ENST00000404796.3:c.348-58224_348-58209del ENSP00000385916.2:n.348-58224_348-58209del
ENST00000579755.2:c.194-16_194-1del MANE Plus Clinical ENSP00000462950.1:n.194-16_194-1del
ENST00000304494.9:c.151-16_151-1del ENSP00000307101.5:n.151-16_151-1del
ENST00000361570.4:c.194-16_194-1del ENSP00000355153.4:n.194-16_194-1del
ENST00000380150.2:n.109_124del
ENST00000380151.3:c.425-16_425-1del ENSP00000369496.3:n.425-16_425-1del
ENST00000404796.2:c.348-58224_348-58209del ENSP00000385916.2:n.348-58224_348-58209del
ENST00000479692.2:c.-3-16_-3-1del ENSP00000466887.1:n.-3-16_-3-1del
ENST00000494262.5:c.-3-16_-3-1del ENSP00000464952.1:n.-3-16_-3-1del
ENST00000497750.1:c.-3-16_-3-1del ENSP00000468510.1:n.-3-16_-3-1del
ENST00000498124.1:c.151-16_151-1del ENSP00000418915.1:n.151-16_151-1del
ENST00000498628.6:c.-3-16_-3-1del ENSP00000467857.1:n.-3-16_-3-1del
ENST00000530628.2:c.194-16_194-1del ENSP00000432664.2:n.194-16_194-1del
ENST00000578845.2:c.-19_-4del ENSP00000467390.1:n.-19_-4del
ENST00000579122.1:c.151-16_151-1del ENSP00000464202.1:n.151-16_151-1del
ENST00000579755.1:c.194-16_194-1del ENSP00000462950.1:n.194-16_194-1del
NM_000077.4:c.151-16_151-1del , LRG_11t1:c.151-16_151-1del NP_000068.1:n.151-16_151-1del
NM_001195132.1:c.151-16_151-1del NP_001182061.1:n.151-16_151-1del
NM_058195.3:c.194-16_194-1del , LRG_11t2:c.194-16_194-1del NP_478102.2:n.194-16_194-1del
NM_058197.4:c.425-16_425-1del NP_478104.2:n.425-16_425-1del
XM_005251343.1:c.-3-16_-3-1del XP_005251400.1:n.-3-16_-3-1del
XM_011517675.1:c.151-16_151-1del XP_011515977.1:n.151-16_151-1del
XM_011517676.1:c.151-16_151-1del XP_011515978.1:n.151-16_151-1del
XM_011517679.1:c.-3-16_-3-1del XP_011515981.1:n.-3-16_-3-1del
XR_929159.1:n.552-16_552-1del
XR_929161.1:n.341-16_341-1del
XR_929162.1:n.341-16_341-1del
XR_929163.1:n.290-16_290-1del
XR_929164.1:n.73-16_73-1del
NM_001363763.1:c.-3-16_-3-1del NP_001350692.1:n.-3-16_-3-1del
XM_011517675.2:c.151-16_151-1del XP_011515977.1:n.151-16_151-1del
XM_011517676.2:c.151-16_151-1del XP_011515978.1:n.151-16_151-1del
XR_929159.2:n.481-16_481-1del
NM_001363763.2:c.-3-16_-3-1del NP_001350692.1:n.-3-16_-3-1del
NM_000077.5:c.151-16_151-1del MANE Select NP_000068.1:n.151-16_151-1del
NM_001195132.2:c.151-16_151-1del NP_001182061.1:n.151-16_151-1del
NM_058195.4:c.194-16_194-1del MANE Plus Clinical NP_478102.2:n.194-16_194-1del
NM_058197.5:c.*74-16_*74-1del NP_478104.2:n.*74-16_*74-1del