Canonical Allele Identifier: CA1839178880
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988958_21988962delinsCCTCA , CM000671.2:g.21988958_21988962delinsCCTCA GRCh38
NC_000009.11:g.21988957_21988961delinsCCTCA , CM000671.1:g.21988957_21988961delinsCCTCA GRCh37
NC_000009.10:g.21978957_21978961delinsCCTCA NCBI36
NG_007485.1:g.10530_10534delinsTGAGG , LRG_11:g.10530_10534delinsTGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40475_348-40471delinsCCTCA ENSP00000385916.2:n.348-40475_348-40471delinsCCTCA
ENST00000579755.2:c.193+5177_193+5181delinsTGAGG MANE Plus Clinical ENSP00000462950.1:n.193+5177_193+5181delinsTGAGG
ENST00000361570.4:c.193+5177_193+5181delinsTGAGG ENSP00000355153.4:n.193+5177_193+5181delinsTGAGG
ENST00000404796.2:c.348-40475_348-40471delinsCCTCA ENSP00000385916.2:n.348-40475_348-40471delinsCCTCA
ENST00000494262.5:c.-4+4920_-4+4924delinsTGAGG ENSP00000464952.1:n.-4+4920_-4+4924delinsTGAGG
ENST00000498628.6:c.-4+5859_-4+5863delinsTGAGG ENSP00000467857.1:n.-4+5859_-4+5863delinsTGAGG
ENST00000530628.2:c.193+5177_193+5181delinsTGAGG ENSP00000432664.2:n.193+5177_193+5181delinsTGAGG
ENST00000579755.1:c.193+5177_193+5181delinsTGAGG ENSP00000462950.1:n.193+5177_193+5181delinsTGAGG
NM_058195.3:c.193+5177_193+5181delinsTGAGG , LRG_11t2:c.193+5177_193+5181delinsTGAGG NP_478102.2:n.193+5177_193+5181delinsTGAGG
XM_011517678.1:c.*968_*972delinsTGAGG XP_011515980.1:n.*968_*972delinsTGAGG
XM_011517679.1:c.-4+5859_-4+5863delinsTGAGG XP_011515981.1:n.-4+5859_-4+5863delinsTGAGG
XR_929161.1:n.340+5177_340+5181delinsTGAGG
XR_929162.1:n.340+5177_340+5181delinsTGAGG
XR_929163.1:n.289+5177_289+5181delinsTGAGG
NM_001363763.1:c.-4+5859_-4+5863delinsTGAGG NP_001350692.1:n.-4+5859_-4+5863delinsTGAGG
NM_001363763.2:c.-4+5859_-4+5863delinsTGAGG NP_001350692.1:n.-4+5859_-4+5863delinsTGAGG
NM_058195.4:c.193+5177_193+5181delinsTGAGG MANE Plus Clinical NP_478102.2:n.193+5177_193+5181delinsTGAGG