Canonical Allele Identifier: CA1839178705
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988578_21988582delinsAATAG , CM000671.2:g.21988578_21988582delinsAATAG GRCh38
NC_000009.11:g.21988577_21988581delinsAATAG , CM000671.1:g.21988577_21988581delinsAATAG GRCh37
NC_000009.10:g.21978577_21978581delinsAATAG NCBI36
NG_007485.1:g.10910_10914delinsCTATT , LRG_11:g.10910_10914delinsCTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40855_348-40851delinsAATAG ENSP00000385916.2:n.348-40855_348-40851delinsAATAG
ENST00000579755.2:c.193+5557_193+5561delinsCTATT MANE Plus Clinical ENSP00000462950.1:n.193+5557_193+5561delinsCTATT
ENST00000361570.4:c.193+5557_193+5561delinsCTATT ENSP00000355153.4:n.193+5557_193+5561delinsCTATT
ENST00000404796.2:c.348-40855_348-40851delinsAATAG ENSP00000385916.2:n.348-40855_348-40851delinsAATAG
ENST00000494262.5:c.-4+5300_-4+5304delinsCTATT ENSP00000464952.1:n.-4+5300_-4+5304delinsCTATT
ENST00000498628.6:c.-4+6239_-4+6243delinsCTATT ENSP00000467857.1:n.-4+6239_-4+6243delinsCTATT
ENST00000530628.2:c.193+5557_193+5561delinsCTATT ENSP00000432664.2:n.193+5557_193+5561delinsCTATT
ENST00000579755.1:c.193+5557_193+5561delinsCTATT ENSP00000462950.1:n.193+5557_193+5561delinsCTATT
NM_058195.3:c.193+5557_193+5561delinsCTATT , LRG_11t2:c.193+5557_193+5561delinsCTATT NP_478102.2:n.193+5557_193+5561delinsCTATT
XM_011517678.1:c.*1348_*1352delinsCTATT XP_011515980.1:n.*1348_*1352delinsCTATT
XM_011517679.1:c.-4+6239_-4+6243delinsCTATT XP_011515981.1:n.-4+6239_-4+6243delinsCTATT
XR_929161.1:n.340+5557_340+5561delinsCTATT
XR_929162.1:n.340+5557_340+5561delinsCTATT
XR_929163.1:n.289+5557_289+5561delinsCTATT
NM_001363763.1:c.-4+6239_-4+6243delinsCTATT NP_001350692.1:n.-4+6239_-4+6243delinsCTATT
NM_001363763.2:c.-4+6239_-4+6243delinsCTATT NP_001350692.1:n.-4+6239_-4+6243delinsCTATT
NM_058195.4:c.193+5557_193+5561delinsCTATT MANE Plus Clinical NP_478102.2:n.193+5557_193+5561delinsCTATT