Canonical Allele Identifier: CA2831116709
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971143_21971144delinsTT , CM000671.2:g.21971143_21971144delinsTT GRCh38
NC_000009.11:g.21971142_21971143delinsTT , CM000671.1:g.21971142_21971143delinsTT GRCh37
NC_000009.10:g.21961142_21961143delinsTT NCBI36
NG_007485.1:g.28348_28349delinsAA , LRG_11:g.28348_28349delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.215_216delinsAA MANE Select ENSP00000307101.5:p.Cys72Ter
ENST00000404796.3:c.348-58290_348-58289delinsTT ENSP00000385916.2:n.348-58290_348-58289delinsTT
ENST00000579755.2:c.258_259delinsAA MANE Plus Clinical ENSP00000462950.1:p.Arg87Ser
ENST00000304494.9:c.215_216delinsAA ENSP00000307101.5:p.Cys72Ter
ENST00000361570.4:c.258_259delinsAA ENSP00000355153.4:p.Arg87Ser
ENST00000380150.2:n.189_190delinsAA
ENST00000380151.3:c.489_490delinsAA ENSP00000369496.3:n.489_490delinsAA
ENST00000404796.2:c.348-58290_348-58289delinsTT ENSP00000385916.2:n.348-58290_348-58289delinsTT
ENST00000479692.2:c.62_63delinsAA ENSP00000466887.1:p.Cys21Ter
ENST00000494262.5:c.62_63delinsAA ENSP00000464952.1:p.Cys21Ter
ENST00000497750.1:c.62_63delinsAA ENSP00000468510.1:p.Cys21Ter
ENST00000498124.1:c.215_216delinsAA ENSP00000418915.1:p.Cys72Ter
ENST00000498628.6:c.62_63delinsAA ENSP00000467857.1:p.Cys21Ter
ENST00000530628.2:c.258_259delinsAA ENSP00000432664.2:p.Arg87Ser
ENST00000578845.2:c.62_63delinsAA ENSP00000467390.1:p.Cys21Ter
ENST00000579122.1:c.215_216delinsAA ENSP00000464202.1:p.Cys72Ter
ENST00000579755.1:c.258_259delinsAA ENSP00000462950.1:p.Arg87Ser
NM_000077.4:c.215_216delinsAA , LRG_11t1:c.215_216delinsAA NP_000068.1:p.Cys72Ter
NM_001195132.1:c.215_216delinsAA NP_001182061.1:p.Cys72Ter
NM_058195.3:c.258_259delinsAA , LRG_11t2:c.258_259delinsAA NP_478102.2:p.Arg87Ser
NM_058197.4:c.489_490delinsAA NP_478104.2:n.489_490delinsAA
XM_005251343.1:c.62_63delinsAA XP_005251400.1:p.Cys21Ter
XM_011517675.1:c.215_216delinsAA XP_011515977.1:p.Cys72Ter
XM_011517676.1:c.215_216delinsAA XP_011515978.1:p.Cys72Ter
XM_011517679.1:c.62_63delinsAA XP_011515981.1:p.Cys21Ter
XR_929159.1:n.616_617delinsAA
XR_929161.1:n.405_406delinsAA
XR_929162.1:n.405_406delinsAA
XR_929163.1:n.354_355delinsAA
XR_929164.1:n.137_138delinsAA
NM_001363763.1:c.62_63delinsAA NP_001350692.1:p.Cys21Ter
XM_011517675.2:c.215_216delinsAA XP_011515977.1:p.Cys72Ter
XM_011517676.2:c.215_216delinsAA XP_011515978.1:p.Cys72Ter
XR_929159.2:n.545_546delinsAA
NM_001363763.2:c.62_63delinsAA NP_001350692.1:p.Cys21Ter
NM_000077.5:c.215_216delinsAA MANE Select NP_000068.1:p.Cys72Ter
NM_001195132.2:c.215_216delinsAA NP_001182061.1:p.Cys72Ter
NM_058195.4:c.258_259delinsAA MANE Plus Clinical NP_478102.2:p.Arg87Ser
NM_058197.5:c.*138_*139delinsAA NP_478104.2:n.*138_*139delinsAA