Canonical Allele Identifier: CA1839178758
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988711_21988712delinsTA , CM000671.2:g.21988711_21988712delinsTA GRCh38
NC_000009.11:g.21988710_21988711delinsTA , CM000671.1:g.21988710_21988711delinsTA GRCh37
NC_000009.10:g.21978710_21978711delinsTA NCBI36
NG_007485.1:g.10780_10781delinsTA , LRG_11:g.10780_10781delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40722_348-40721delinsTA ENSP00000385916.2:n.348-40722_348-40721delinsTA
ENST00000579755.2:c.193+5427_193+5428delinsTA MANE Plus Clinical ENSP00000462950.1:n.193+5427_193+5428delinsTA
ENST00000361570.4:c.193+5427_193+5428delinsTA ENSP00000355153.4:n.193+5427_193+5428delinsTA
ENST00000404796.2:c.348-40722_348-40721delinsTA ENSP00000385916.2:n.348-40722_348-40721delinsTA
ENST00000494262.5:c.-4+5170_-4+5171delinsTA ENSP00000464952.1:n.-4+5170_-4+5171delinsTA
ENST00000498628.6:c.-4+6109_-4+6110delinsTA ENSP00000467857.1:n.-4+6109_-4+6110delinsTA
ENST00000530628.2:c.193+5427_193+5428delinsTA ENSP00000432664.2:n.193+5427_193+5428delinsTA
ENST00000579755.1:c.193+5427_193+5428delinsTA ENSP00000462950.1:n.193+5427_193+5428delinsTA
NM_058195.3:c.193+5427_193+5428delinsTA , LRG_11t2:c.193+5427_193+5428delinsTA NP_478102.2:n.193+5427_193+5428delinsTA
XM_011517678.1:c.*1218_*1219delinsTA XP_011515980.1:n.*1218_*1219delinsTA
XM_011517679.1:c.-4+6109_-4+6110delinsTA XP_011515981.1:n.-4+6109_-4+6110delinsTA
XR_929161.1:n.340+5427_340+5428delinsTA
XR_929162.1:n.340+5427_340+5428delinsTA
XR_929163.1:n.289+5427_289+5428delinsTA
NM_001363763.1:c.-4+6109_-4+6110delinsTA NP_001350692.1:n.-4+6109_-4+6110delinsTA
NM_001363763.2:c.-4+6109_-4+6110delinsTA NP_001350692.1:n.-4+6109_-4+6110delinsTA
NM_058195.4:c.193+5427_193+5428delinsTA MANE Plus Clinical NP_478102.2:n.193+5427_193+5428delinsTA