Canonical Allele Identifier: CA645552430
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970979_21971208del , CM000671.2:g.21970979_21971208del GRCh38
NC_000009.11:g.21970978_21971207del , CM000671.1:g.21970978_21971207del GRCh37
NC_000009.10:g.21960978_21961207del NCBI36
NG_007485.1:g.28284_28513del , LRG_11:g.28284_28513del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.151_380del MANE Select ENSP00000307101.5:p.Val51ThrfsTer14
ENST00000404796.3:c.348-58454_348-58225del ENSP00000385916.2:n.348-58454_348-58225de...
ENST00000579755.2:c.194_*24del MANE Plus Clinical ENSP00000462950.1:n.[c.194_*24del;Gly65As...
ENST00000304494.9:c.151_380del ENSP00000307101.5:p.Val51ThrfsTer14
ENST00000361570.4:c.194_422del
ENST00000380150.2:n.125_354del
ENST00000380151.3:c.425_654del ENSP00000369496.3:n.425_654del
ENST00000404796.2:c.348-58454_348-58225del ENSP00000385916.2:n.348-58454_348-58225de...
ENST00000479692.2:c.-3_227del
ENST00000494262.5:c.-3_227del
ENST00000497750.1:c.-3_227del
ENST00000498124.1:c.151_380del ENSP00000418915.1:p.Val51ThrfsTer14
ENST00000498628.6:c.-3_227del
ENST00000530628.2:c.194_*24del ENSP00000432664.2:n.[c.194_*24del;Gly65As...
ENST00000578845.2:c.-3_227del
ENST00000579122.1:c.151_380del ENSP00000464202.1:p.Val51ThrfsTer?
ENST00000579755.1:c.194_*24del ENSP00000462950.1:n.[c.194_*24del;Gly65As...
NM_000077.4:c.151_380del , LRG_11t1:c.151_380del NP_000068.1:p.Val51ThrfsTer14
NM_001195132.1:c.151_380del NP_001182061.1:p.Val51ThrfsTer14
NM_058195.3:c.194_*24del , LRG_11t2:c.194_*24del NP_478102.2:n.[c.194_*24del;Gly65AspfsTer...
NM_058197.4:c.425_654del NP_478104.2:n.425_654del
XM_005251343.1:c.-3_227del
XM_011517675.1:c.151_380del XP_011515977.1:p.Val51ThrfsTer14
XM_011517676.1:c.151_380del XP_011515978.1:p.Val51ThrfsTer14
XM_011517679.1:c.-3_227del
XR_929159.1:n.552_781del
XR_929161.1:n.341_570del
XR_929162.1:n.341_570del
XR_929163.1:n.290_519del
XR_929164.1:n.73_302del
NM_001363763.1:c.-3_227del
XM_011517675.2:c.151_380del XP_011515977.1:p.Val51ThrfsTer14
XM_011517676.2:c.151_380del XP_011515978.1:p.Val51ThrfsTer14
XR_929159.2:n.481_710del
NM_001363763.2:c.-3_227del
NM_000077.5:c.151_380del MANE Select NP_000068.1:p.Val51ThrfsTer14
NM_001195132.2:c.151_380del NP_001182061.1:p.Val51ThrfsTer14
NM_058195.4:c.194_*24del MANE Plus Clinical NP_478102.2:n.[c.194_*24del;Gly65AspfsTer...
NM_058197.5:c.*74_*303del NP_478104.2:n.*74_*303del