Canonical Allele Identifier: CA645552451
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971040_21971041del , CM000671.2:g.21971040_21971041del GRCh38
NC_000009.11:g.21971039_21971040del , CM000671.1:g.21971039_21971040del GRCh37
NC_000009.10:g.21961039_21961040del NCBI36
NG_007485.1:g.28454_28455del , LRG_11:g.28454_28455del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.321_322del MANE Select ENSP00000307101.5:p.Asp108CysfsTer11
ENST00000404796.3:c.348-58393_348-58392del ENSP00000385916.2:n.348-58393_348-58392de...
ENST00000579755.2:c.364_365del MANE Plus Clinical ENSP00000462950.1:p.Arg122MetfsTer?
ENST00000304494.9:c.321_322del ENSP00000307101.5:p.Asp108CysfsTer11
ENST00000361570.4:c.363_364del ENSP00000355153.4:p.Asp122CysfsTer11
ENST00000380150.2:n.295_296del
ENST00000380151.3:c.595_596del ENSP00000369496.3:n.595_596del
ENST00000404796.2:c.348-58393_348-58392del ENSP00000385916.2:n.348-58393_348-58392de...
ENST00000479692.2:c.168_169del ENSP00000466887.1:p.Asp57CysfsTer11
ENST00000494262.5:c.168_169del ENSP00000464952.1:p.Asp57CysfsTer11
ENST00000497750.1:c.168_169del ENSP00000468510.1:p.Asp57CysfsTer11
ENST00000498124.1:c.321_322del ENSP00000418915.1:p.Asp108CysfsTer11
ENST00000498628.6:c.168_169del ENSP00000467857.1:p.Asp57CysfsTer11
ENST00000530628.2:c.364_365del ENSP00000432664.2:p.Arg122MetfsTer25
ENST00000578845.2:c.168_169del ENSP00000467390.1:p.Asp57CysfsTer11
ENST00000579122.1:c.321_322del ENSP00000464202.1:p.Asp108CysfsTer11
ENST00000579755.1:c.364_365del ENSP00000462950.1:p.Arg122MetfsTer?
NM_000077.4:c.321_322del , LRG_11t1:c.321_322del NP_000068.1:p.Asp108CysfsTer11
NM_001195132.1:c.321_322del NP_001182061.1:p.Asp108CysfsTer11
NM_058195.3:c.364_365del , LRG_11t2:c.364_365del NP_478102.2:p.Arg122MetfsTer?
NM_058197.4:c.595_596del NP_478104.2:n.595_596del
XM_005251343.1:c.168_169del XP_005251400.1:p.Asp57CysfsTer11
XM_011517675.1:c.321_322del XP_011515977.1:p.Asp108CysfsTer11
XM_011517676.1:c.321_322del XP_011515978.1:p.Asp108CysfsTer11
XM_011517679.1:c.168_169del XP_011515981.1:p.Asp57CysfsTer11
XR_929159.1:n.722_723del
XR_929161.1:n.511_512del
XR_929162.1:n.511_512del
XR_929163.1:n.460_461del
XR_929164.1:n.243_244del
NM_001363763.1:c.168_169del NP_001350692.1:p.Asp57CysfsTer11
XM_011517675.2:c.321_322del XP_011515977.1:p.Asp108CysfsTer11
XM_011517676.2:c.321_322del XP_011515978.1:p.Asp108CysfsTer11
XR_929159.2:n.651_652del
NM_001363763.2:c.168_169del NP_001350692.1:p.Asp57CysfsTer11
NM_000077.5:c.321_322del MANE Select NP_000068.1:p.Asp108CysfsTer11
NM_001195132.2:c.321_322del NP_001182061.1:p.Asp108CysfsTer11
NM_058195.4:c.364_365del MANE Plus Clinical NP_478102.2:p.Arg122MetfsTer?
NM_058197.5:c.*244_*245del NP_478104.2:n.*244_*245del