Canonical Allele Identifier: CA2840157322
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968217dup , CM000671.2:g.21968217dup GRCh38
NC_000009.11:g.21968216dup , CM000671.1:g.21968216dup GRCh37
NC_000009.10:g.21958216dup NCBI36
NG_007485.1:g.31275dup , LRG_11:g.31275dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*12dup MANE Select ENSP00000307101.5:n.*12dup
ENST00000404796.3:c.348-61216dup ENSP00000385916.2:n.348-61216dup
ENST00000579755.2:c.*127dup MANE Plus Clinical ENSP00000462950.1:n.*127dup
ENST00000304494.9:c.*12dup ENSP00000307101.5:n.*12dup
ENST00000361570.4:c.*12dup ENSP00000355153.4:n.*12dup
ENST00000380151.3:c.757dup ENSP00000369496.3:n.757dup
ENST00000404796.2:c.348-61216dup ENSP00000385916.2:n.348-61216dup
ENST00000494262.5:c.*12dup ENSP00000464952.1:n.*12dup
ENST00000498124.1:c.*176dup ENSP00000418915.1:n.*176dup
ENST00000498628.6:c.*12dup ENSP00000467857.1:n.*12dup
ENST00000530628.2:c.*53dup ENSP00000432664.2:n.*53dup
ENST00000578845.2:c.*12dup ENSP00000467390.1:n.*12dup
ENST00000579122.1:c.409dup ENSP00000464202.1:p.Arg137LysfsTer?
ENST00000579755.1:c.*127dup ENSP00000462950.1:n.*127dup
NM_000077.4:c.*12dup , LRG_11t1:c.*12dup NP_000068.1:n.*12dup
NM_001195132.1:c.*176dup NP_001182061.1:n.*176dup
NM_058195.3:c.*127dup , LRG_11t2:c.*127dup NP_478102.2:n.*127dup
NM_058197.4:c.757dup NP_478104.2:n.757dup
XM_005251343.1:c.*12dup XP_005251400.1:n.*12dup
XM_011517679.1:c.*12dup XP_011515981.1:n.*12dup
NM_001363763.1:c.*12dup NP_001350692.1:n.*12dup
NM_001363763.2:c.*12dup NP_001350692.1:n.*12dup
NM_000077.5:c.*12dup MANE Select NP_000068.1:n.*12dup
NM_001195132.2:c.*176dup NP_001182061.1:n.*176dup
NM_058195.4:c.*127dup MANE Plus Clinical NP_478102.2:n.*127dup
NM_058197.5:c.*406dup NP_478104.2:n.*406dup