Canonical Allele Identifier: CA120406
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 9424
dbSNP Id: rs387906410

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971019_21971020delinsAG , CM000671.2:g.21971019_21971020delinsAG GRCh38
NC_000009.11:g.21971018_21971019delinsAG , CM000671.1:g.21971018_21971019delinsAG GRCh37
NC_000009.10:g.21961018_21961019delinsAG NCBI36
NG_007485.1:g.28472_28473delinsCT , LRG_11:g.28472_28473delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.339_340delinsCT MANE Select ENSP00000307101.5:p.Pro114Ser
ENST00000404796.3:c.348-58414_348-58413delinsAG ENSP00000385916.2:n.348-58414_348-58413delinsAG
ENST00000579755.2:c.382_383delinsCT MANE Plus Clinical ENSP00000462950.1:p.Ala128Leu
ENST00000304494.9:c.339_340delinsCT ENSP00000307101.5:p.Pro114Ser
ENST00000361570.4:c.381_382delinsCT ENSP00000355153.4:p.Pro128Ser
ENST00000380150.2:n.313_314delinsCT
ENST00000380151.3:c.613_614delinsCT ENSP00000369496.3:n.613_614delinsCT
ENST00000404796.2:c.348-58414_348-58413delinsAG ENSP00000385916.2:n.348-58414_348-58413delinsAG
ENST00000479692.2:c.186_187delinsCT ENSP00000466887.1:p.Pro63Ser
ENST00000494262.5:c.186_187delinsCT ENSP00000464952.1:p.Pro63Ser
ENST00000497750.1:c.186_187delinsCT ENSP00000468510.1:p.Pro63Ser
ENST00000498124.1:c.339_340delinsCT ENSP00000418915.1:p.Pro114Ser
ENST00000498628.6:c.186_187delinsCT ENSP00000467857.1:p.Pro63Ser
ENST00000530628.2:c.382_383delinsCT ENSP00000432664.2:p.Ala128Leu
ENST00000578845.2:c.186_187delinsCT ENSP00000467390.1:p.Pro63Ser
ENST00000579122.1:c.339_340delinsCT ENSP00000464202.1:p.Pro114Ser
ENST00000579755.1:c.382_383delinsCT ENSP00000462950.1:p.Ala128Leu
NM_000077.4:c.339_340delinsCT , LRG_11t1:c.339_340delinsCT NP_000068.1:p.Pro114Ser
NM_001195132.1:c.339_340delinsCT NP_001182061.1:p.Pro114Ser
NM_058195.3:c.382_383delinsCT , LRG_11t2:c.382_383delinsCT NP_478102.2:p.Ala128Leu
NM_058197.4:c.613_614delinsCT NP_478104.2:n.613_614delinsCT
XM_005251343.1:c.186_187delinsCT XP_005251400.1:p.Pro63Ser
XM_011517675.1:c.339_340delinsCT XP_011515977.1:p.Pro114Ser
XM_011517676.1:c.339_340delinsCT XP_011515978.1:p.Pro114Ser
XM_011517679.1:c.186_187delinsCT XP_011515981.1:p.Pro63Ser
XR_929159.1:n.740_741delinsCT
XR_929161.1:n.529_530delinsCT
XR_929162.1:n.529_530delinsCT
XR_929163.1:n.478_479delinsCT
XR_929164.1:n.261_262delinsCT
NM_001363763.1:c.186_187delinsCT NP_001350692.1:p.Pro63Ser
XM_011517675.2:c.339_340delinsCT XP_011515977.1:p.Pro114Ser
XM_011517676.2:c.339_340delinsCT XP_011515978.1:p.Pro114Ser
XR_929159.2:n.669_670delinsCT
NM_001363763.2:c.186_187delinsCT NP_001350692.1:p.Pro63Ser
NM_000077.5:c.339_340delinsCT MANE Select NP_000068.1:p.Pro114Ser
NM_001195132.2:c.339_340delinsCT NP_001182061.1:p.Pro114Ser
NM_058195.4:c.382_383delinsCT MANE Plus Clinical NP_478102.2:p.Ala128Leu
NM_058197.5:c.*262_*263delinsCT NP_478104.2:n.*262_*263delinsCT