Canonical Allele Identifier: CA645552481
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971110_21971111delinsAG , CM000671.2:g.21971110_21971111delinsAG GRCh38
NC_000009.11:g.21971109_21971110delinsAG , CM000671.1:g.21971109_21971110delinsAG GRCh37
NC_000009.10:g.21961109_21961110delinsAG NCBI36
NG_007485.1:g.28381_28382delinsCT , LRG_11:g.28381_28382delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.248_249delinsCT MANE Select ENSP00000307101.5:p.His83Pro
ENST00000404796.3:c.348-58323_348-58322delinsAG ENSP00000385916.2:n.348-58323_348-58322delinsAG
ENST00000579755.2:c.291_292delinsCT MANE Plus Clinical ENSP00000462950.1:p.Ala98Ter
ENST00000304494.9:c.248_249delinsCT ENSP00000307101.5:p.His83Pro
ENST00000361570.4:c.290_291delinsCT ENSP00000355153.4:p.His97Pro
ENST00000380150.2:n.222_223delinsCT
ENST00000380151.3:c.522_523delinsCT ENSP00000369496.3:n.522_523delinsCT
ENST00000404796.2:c.348-58323_348-58322delinsAG ENSP00000385916.2:n.348-58323_348-58322delinsAG
ENST00000479692.2:c.95_96delinsCT ENSP00000466887.1:p.His32Pro
ENST00000494262.5:c.95_96delinsCT ENSP00000464952.1:p.His32Pro
ENST00000497750.1:c.95_96delinsCT ENSP00000468510.1:p.His32Pro
ENST00000498124.1:c.248_249delinsCT ENSP00000418915.1:p.His83Pro
ENST00000498628.6:c.95_96delinsCT ENSP00000467857.1:p.His32Pro
ENST00000530628.2:c.291_292delinsCT ENSP00000432664.2:p.Ala98Ter
ENST00000578845.2:c.95_96delinsCT ENSP00000467390.1:p.His32Pro
ENST00000579122.1:c.248_249delinsCT ENSP00000464202.1:p.His83Pro
ENST00000579755.1:c.291_292delinsCT ENSP00000462950.1:p.Ala98Ter
NM_000077.4:c.248_249delinsCT , LRG_11t1:c.248_249delinsCT NP_000068.1:p.His83Pro
NM_001195132.1:c.248_249delinsCT NP_001182061.1:p.His83Pro
NM_058195.3:c.291_292delinsCT , LRG_11t2:c.291_292delinsCT NP_478102.2:p.Ala98Ter
NM_058197.4:c.522_523delinsCT NP_478104.2:n.522_523delinsCT
XM_005251343.1:c.95_96delinsCT XP_005251400.1:p.His32Pro
XM_011517675.1:c.248_249delinsCT XP_011515977.1:p.His83Pro
XM_011517676.1:c.248_249delinsCT XP_011515978.1:p.His83Pro
XM_011517679.1:c.95_96delinsCT XP_011515981.1:p.His32Pro
XR_929159.1:n.649_650delinsCT
XR_929161.1:n.438_439delinsCT
XR_929162.1:n.438_439delinsCT
XR_929163.1:n.387_388delinsCT
XR_929164.1:n.170_171delinsCT
NM_001363763.1:c.95_96delinsCT NP_001350692.1:p.His32Pro
XM_011517675.2:c.248_249delinsCT XP_011515977.1:p.His83Pro
XM_011517676.2:c.248_249delinsCT XP_011515978.1:p.His83Pro
XR_929159.2:n.578_579delinsCT
NM_001363763.2:c.95_96delinsCT NP_001350692.1:p.His32Pro
NM_000077.5:c.248_249delinsCT MANE Select NP_000068.1:p.His83Pro
NM_001195132.2:c.248_249delinsCT NP_001182061.1:p.His83Pro
NM_058195.4:c.291_292delinsCT MANE Plus Clinical NP_478102.2:p.Ala98Ter
NM_058197.5:c.*171_*172delinsCT NP_478104.2:n.*171_*172delinsCT