Canonical Allele Identifier: CA645552548
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971179_21971186del , CM000671.2:g.21971179_21971186del GRCh38
NC_000009.11:g.21971178_21971185del , CM000671.1:g.21971178_21971185del GRCh37
NC_000009.10:g.21961178_21961185del NCBI36
NG_007485.1:g.28309_28316del , LRG_11:g.28309_28316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.176_183del MANE Select ENSP00000307101.5:p.Val59AlafsTer?
ENST00000404796.3:c.348-58254_348-58247del ENSP00000385916.2:n.348-58254_348-58247del
ENST00000579755.2:c.219_226del MANE Plus Clinical ENSP00000462950.1:p.Gly74CysfsTer?
ENST00000304494.9:c.176_183del ENSP00000307101.5:p.Val59AlafsTer?
ENST00000361570.4:c.219_226del ENSP00000355153.4:p.Gly74CysfsTer?
ENST00000380150.2:n.150_157del
ENST00000380151.3:c.450_457del ENSP00000369496.3:n.450_457del
ENST00000404796.2:c.348-58254_348-58247del ENSP00000385916.2:n.348-58254_348-58247del
ENST00000479692.2:c.23_30del ENSP00000466887.1:p.Val8AlafsTer?
ENST00000494262.5:c.23_30del ENSP00000464952.1:p.Val8AlafsTer?
ENST00000497750.1:c.23_30del ENSP00000468510.1:p.Val8AlafsTer?
ENST00000498124.1:c.176_183del ENSP00000418915.1:p.Val59AlafsTer?
ENST00000498628.6:c.23_30del ENSP00000467857.1:p.Val8AlafsTer?
ENST00000530628.2:c.219_226del ENSP00000432664.2:p.Gly74CysfsTer?
ENST00000578845.2:c.23_30del ENSP00000467390.1:p.Val8AlafsTer?
ENST00000579122.1:c.176_183del ENSP00000464202.1:p.Val59AlafsTer?
ENST00000579755.1:c.219_226del ENSP00000462950.1:p.Gly74CysfsTer?
NM_000077.4:c.176_183del , LRG_11t1:c.176_183del NP_000068.1:p.Val59AlafsTer?
NM_001195132.1:c.176_183del NP_001182061.1:p.Val59AlafsTer?
NM_058195.3:c.219_226del , LRG_11t2:c.219_226del NP_478102.2:p.Gly74CysfsTer?
NM_058197.4:c.450_457del NP_478104.2:n.450_457del
XM_005251343.1:c.23_30del XP_005251400.1:p.Val8AlafsTer?
XM_011517675.1:c.176_183del XP_011515977.1:p.Val59AlafsTer?
XM_011517676.1:c.176_183del XP_011515978.1:p.Val59AlafsTer?
XM_011517679.1:c.23_30del XP_011515981.1:p.Val8AlafsTer?
XR_929159.1:n.577_584del
XR_929161.1:n.366_373del
XR_929162.1:n.366_373del
XR_929163.1:n.315_322del
XR_929164.1:n.98_105del
NM_001363763.1:c.23_30del NP_001350692.1:p.Val8AlafsTer?
XM_011517675.2:c.176_183del XP_011515977.1:p.Val59AlafsTer?
XM_011517676.2:c.176_183del XP_011515978.1:p.Val59AlafsTer?
XR_929159.2:n.506_513del
NM_001363763.2:c.23_30del NP_001350692.1:p.Val8AlafsTer?
NM_000077.5:c.176_183del MANE Select NP_000068.1:p.Val59AlafsTer?
NM_001195132.2:c.176_183del NP_001182061.1:p.Val59AlafsTer?
NM_058195.4:c.219_226del MANE Plus Clinical NP_478102.2:p.Gly74CysfsTer?
NM_058197.5:c.*99_*106del NP_478104.2:n.*99_*106del