Canonical Allele Identifier: CA645552466
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13473

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971074_21971076delinsGAG , CM000671.2:g.21971074_21971076delinsGAG GRCh38
NC_000009.11:g.21971073_21971075delinsGAG , CM000671.1:g.21971073_21971075delinsGAG GRCh37
NC_000009.10:g.21961073_21961075delinsGAG NCBI36
NG_007485.1:g.28416_28418delinsCTC , LRG_11:g.28416_28418delinsCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.283_285delinsCTC MANE Select ENSP00000307101.5:p.Val95Leu
ENST00000404796.3:c.348-58359_348-58357delinsGAG ENSP00000385916.2:n.348-58359_348-58357delinsGAG
ENST00000579755.2:c.326_328delinsCTC MANE Plus Clinical ENSP00000462950.1:p.Gly109_Gly110delinsAlaArg
ENST00000304494.9:c.283_285delinsCTC ENSP00000307101.5:p.Val95Leu
ENST00000361570.4:c.325_327delinsCTC ENSP00000355153.4:p.Val109Leu
ENST00000380150.2:n.257_259delinsCTC
ENST00000380151.3:c.557_559delinsCTC ENSP00000369496.3:n.557_559delinsCTC
ENST00000404796.2:c.348-58359_348-58357delinsGAG ENSP00000385916.2:n.348-58359_348-58357delinsGAG
ENST00000479692.2:c.130_132delinsCTC ENSP00000466887.1:p.Val44Leu
ENST00000494262.5:c.130_132delinsCTC ENSP00000464952.1:p.Val44Leu
ENST00000497750.1:c.130_132delinsCTC ENSP00000468510.1:p.Val44Leu
ENST00000498124.1:c.283_285delinsCTC ENSP00000418915.1:p.Val95Leu
ENST00000498628.6:c.130_132delinsCTC ENSP00000467857.1:p.Val44Leu
ENST00000530628.2:c.326_328delinsCTC ENSP00000432664.2:p.Gly109_Gly110delinsAlaArg
ENST00000578845.2:c.130_132delinsCTC ENSP00000467390.1:p.Val44Leu
ENST00000579122.1:c.283_285delinsCTC ENSP00000464202.1:p.Val95Leu
ENST00000579755.1:c.326_328delinsCTC ENSP00000462950.1:p.Gly109_Gly110delinsAlaArg
NM_000077.4:c.283_285delinsCTC , LRG_11t1:c.283_285delinsCTC NP_000068.1:p.Val95Leu
NM_001195132.1:c.283_285delinsCTC NP_001182061.1:p.Val95Leu
NM_058195.3:c.326_328delinsCTC , LRG_11t2:c.326_328delinsCTC NP_478102.2:p.Gly109_Gly110delinsAlaArg
NM_058197.4:c.557_559delinsCTC NP_478104.2:n.557_559delinsCTC
XM_005251343.1:c.130_132delinsCTC XP_005251400.1:p.Val44Leu
XM_011517675.1:c.283_285delinsCTC XP_011515977.1:p.Val95Leu
XM_011517676.1:c.283_285delinsCTC XP_011515978.1:p.Val95Leu
XM_011517679.1:c.130_132delinsCTC XP_011515981.1:p.Val44Leu
XR_929159.1:n.684_686delinsCTC
XR_929161.1:n.473_475delinsCTC
XR_929162.1:n.473_475delinsCTC
XR_929163.1:n.422_424delinsCTC
XR_929164.1:n.205_207delinsCTC
NM_001363763.1:c.130_132delinsCTC NP_001350692.1:p.Val44Leu
XM_011517675.2:c.283_285delinsCTC XP_011515977.1:p.Val95Leu
XM_011517676.2:c.283_285delinsCTC XP_011515978.1:p.Val95Leu
XR_929159.2:n.613_615delinsCTC
NM_001363763.2:c.130_132delinsCTC NP_001350692.1:p.Val44Leu
NM_000077.5:c.283_285delinsCTC MANE Select NP_000068.1:p.Val95Leu
NM_001195132.2:c.283_285delinsCTC NP_001182061.1:p.Val95Leu
NM_058195.4:c.326_328delinsCTC MANE Plus Clinical NP_478102.2:p.Gly109_Gly110delinsAlaArg
NM_058197.5:c.*206_*208delinsCTC NP_478104.2:n.*206_*208delinsCTC