Canonical Allele Identifier: CA862193738
Community Standard Title: NM_000077.5(CDKN2A):c.458-8del
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968252del , CM000671.2:g.21968252del GRCh38
NC_000009.11:g.21968251del , CM000671.1:g.21968251del GRCh37
NC_000009.10:g.21958251del NCBI36
NG_007485.1:g.31242del , LRG_11:g.31242del

Transcript Alleles

HGVS Amino-acid Change
NM_000077.5:c.458-8del MANE Select NP_000068.1:n.458-8del
ENST00000304494.10:c.458-8del MANE Select ENSP00000307101.5:n.458-8del
NM_058195.4:c.*102-8del MANE Plus Clinical NP_478102.2:n.*102-8del
ENST00000579755.2:c.*102-8del MANE Plus Clinical ENSP00000462950.1:n.*102-8del
NM_000077.4:c.458-8del , LRG_11t1:c.458-8del NP_000068.1:n.458-8del
NM_001195132.1:c.*151-8del NP_001182061.1:n.*151-8del
NM_001195132.2:c.*151-8del NP_001182061.1:n.*151-8del
NM_001363763.1:c.305-8del NP_001350692.1:n.305-8del
NM_001363763.2:c.305-8del NP_001350692.1:n.305-8del
NM_058195.3:c.*102-8del , LRG_11t2:c.*102-8del NP_478102.2:n.*102-8del
NM_058197.4:c.732-8del NP_478104.2:n.732-8del
NM_058197.5:c.*381-8del NP_478104.2:n.*381-8del
ENST00000304494.9:c.458-8del ENSP00000307101.5:n.458-8del
ENST00000361570.4:c.500-8del ENSP00000355153.4:n.500-8del
ENST00000380151.3:c.732-8del ENSP00000369496.3:n.732-8del
ENST00000404796.2:c.348-61181del ENSP00000385916.2:n.348-61181del
ENST00000404796.3:c.348-61181del ENSP00000385916.2:n.348-61181del
ENST00000494262.5:c.305-8del ENSP00000464952.1:n.305-8del
ENST00000498124.1:c.*151-8del ENSP00000418915.1:n.*151-8del
ENST00000498628.6:c.305-8del ENSP00000467857.1:n.305-8del
ENST00000530628.2:c.*28-8del ENSP00000432664.2:n.*28-8del
ENST00000578845.2:c.305-8del ENSP00000467390.1:n.305-8del
ENST00000579122.1:c.384-8del ENSP00000464202.1:n.384-8del
ENST00000579755.1:c.*102-8del ENSP00000462950.1:n.*102-8del
XM_005251343.1:c.305-8del XP_005251400.1:n.305-8del
XM_011517676.2:c.*1482del XP_011515978.1:n.*1482del
XM_011517679.1:c.305-8del XP_011515981.1:n.305-8del
XR_929159.2:n.2598del