Canonical Allele Identifier: CA645552578
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971204dup , CM000671.2:g.21971204dup GRCh38
NC_000009.11:g.21971203dup , CM000671.1:g.21971203dup GRCh37
NC_000009.10:g.21961203dup NCBI36
NG_007485.1:g.28288dup , LRG_11:g.28288dup

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.155dup MANE Select ENSP00000307101.5:p.Met52IlefsTer?
ENST00000404796.3:c.348-58229dup ENSP00000385916.2:n.348-58229dup
ENST00000579755.2:c.198dup MANE Plus Clinical ENSP00000462950.1:p.Asp67Ter
ENST00000304494.9:c.155dup ENSP00000307101.5:p.Met52IlefsTer?
ENST00000361570.4:c.198dup ENSP00000355153.4:p.Asp67Ter
ENST00000380150.2:n.129dup
ENST00000380151.3:c.429dup ENSP00000369496.3:n.429dup
ENST00000404796.2:c.348-58229dup ENSP00000385916.2:n.348-58229dup
ENST00000479692.2:c.2dup ENSP00000466887.1:p.Met1IlefsTer?
ENST00000494262.5:c.2dup ENSP00000464952.1:p.Met1IlefsTer?
ENST00000497750.1:c.2dup ENSP00000468510.1:p.Met1IlefsTer?
ENST00000498124.1:c.155dup ENSP00000418915.1:p.Met52IlefsTer?
ENST00000498628.6:c.2dup ENSP00000467857.1:p.Met1IlefsTer?
ENST00000530628.2:c.198dup ENSP00000432664.2:p.Asp67Ter
ENST00000578845.2:c.2dup ENSP00000467390.1:p.Met1IlefsTer?
ENST00000579122.1:c.155dup ENSP00000464202.1:p.Met52IlefsTer?
ENST00000579755.1:c.198dup ENSP00000462950.1:p.Asp67Ter
NM_000077.4:c.155dup , LRG_11t1:c.155dup NP_000068.1:p.Met52IlefsTer?
NM_001195132.1:c.155dup NP_001182061.1:p.Met52IlefsTer?
NM_058195.3:c.198dup , LRG_11t2:c.198dup NP_478102.2:p.Asp67Ter
NM_058197.4:c.429dup NP_478104.2:n.429dup
XM_005251343.1:c.2dup XP_005251400.1:p.Met1IlefsTer?
XM_011517675.1:c.155dup XP_011515977.1:p.Met52IlefsTer?
XM_011517676.1:c.155dup XP_011515978.1:p.Met52IlefsTer?
XM_011517679.1:c.2dup XP_011515981.1:p.Met1IlefsTer?
XR_929159.1:n.556dup
XR_929161.1:n.345dup
XR_929162.1:n.345dup
XR_929163.1:n.294dup
XR_929164.1:n.77dup
NM_001363763.1:c.2dup NP_001350692.1:p.Met1IlefsTer?
XM_011517675.2:c.155dup XP_011515977.1:p.Met52IlefsTer?
XM_011517676.2:c.155dup XP_011515978.1:p.Met52IlefsTer?
XR_929159.2:n.485dup
NM_001363763.2:c.2dup NP_001350692.1:p.Met1IlefsTer?
NM_000077.5:c.155dup MANE Select NP_000068.1:p.Met52IlefsTer?
NM_001195132.2:c.155dup NP_001182061.1:p.Met52IlefsTer?
NM_058195.4:c.198dup MANE Plus Clinical NP_478102.2:p.Asp67Ter
NM_058197.5:c.*78dup NP_478104.2:n.*78dup