Canonical Allele Identifier: CA645552522
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971152_21971153delinsTA , CM000671.2:g.21971152_21971153delinsTA GRCh38
NC_000009.11:g.21971151_21971152delinsTA , CM000671.1:g.21971151_21971152delinsTA GRCh37
NC_000009.10:g.21961151_21961152delinsTA NCBI36
NG_007485.1:g.28339_28340delinsTA , LRG_11:g.28339_28340delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.206_207delinsTA MANE Select ENSP00000307101.5:p.Glu69Val
ENST00000404796.3:c.348-58281_348-58280delinsTA ENSP00000385916.2:n.348-58281_348-58280delinsTA
ENST00000579755.2:c.249_250delinsTA MANE Plus Clinical ENSP00000462950.1:p.Ala84Thr
ENST00000304494.9:c.206_207delinsTA ENSP00000307101.5:p.Glu69Val
ENST00000361570.4:c.249_250delinsTA ENSP00000355153.4:p.Ala84Thr
ENST00000380150.2:n.180_181delinsTA
ENST00000380151.3:c.480_481delinsTA ENSP00000369496.3:n.480_481delinsTA
ENST00000404796.2:c.348-58281_348-58280delinsTA ENSP00000385916.2:n.348-58281_348-58280delinsTA
ENST00000479692.2:c.53_54delinsTA ENSP00000466887.1:p.Glu18Val
ENST00000494262.5:c.53_54delinsTA ENSP00000464952.1:p.Glu18Val
ENST00000497750.1:c.53_54delinsTA ENSP00000468510.1:p.Glu18Val
ENST00000498124.1:c.206_207delinsTA ENSP00000418915.1:p.Glu69Val
ENST00000498628.6:c.53_54delinsTA ENSP00000467857.1:p.Glu18Val
ENST00000530628.2:c.249_250delinsTA ENSP00000432664.2:p.Ala84Thr
ENST00000578845.2:c.53_54delinsTA ENSP00000467390.1:p.Glu18Val
ENST00000579122.1:c.206_207delinsTA ENSP00000464202.1:p.Glu69Val
ENST00000579755.1:c.249_250delinsTA ENSP00000462950.1:p.Ala84Thr
NM_000077.4:c.206_207delinsTA , LRG_11t1:c.206_207delinsTA NP_000068.1:p.Glu69Val
NM_001195132.1:c.206_207delinsTA NP_001182061.1:p.Glu69Val
NM_058195.3:c.249_250delinsTA , LRG_11t2:c.249_250delinsTA NP_478102.2:p.Ala84Thr
NM_058197.4:c.480_481delinsTA NP_478104.2:n.480_481delinsTA
XM_005251343.1:c.53_54delinsTA XP_005251400.1:p.Glu18Val
XM_011517675.1:c.206_207delinsTA XP_011515977.1:p.Glu69Val
XM_011517676.1:c.206_207delinsTA XP_011515978.1:p.Glu69Val
XM_011517679.1:c.53_54delinsTA XP_011515981.1:p.Glu18Val
XR_929159.1:n.607_608delinsTA
XR_929161.1:n.396_397delinsTA
XR_929162.1:n.396_397delinsTA
XR_929163.1:n.345_346delinsTA
XR_929164.1:n.128_129delinsTA
NM_001363763.1:c.53_54delinsTA NP_001350692.1:p.Glu18Val
XM_011517675.2:c.206_207delinsTA XP_011515977.1:p.Glu69Val
XM_011517676.2:c.206_207delinsTA XP_011515978.1:p.Glu69Val
XR_929159.2:n.536_537delinsTA
NM_001363763.2:c.53_54delinsTA NP_001350692.1:p.Glu18Val
NM_000077.5:c.206_207delinsTA MANE Select NP_000068.1:p.Glu69Val
NM_001195132.2:c.206_207delinsTA NP_001182061.1:p.Glu69Val
NM_058195.4:c.249_250delinsTA MANE Plus Clinical NP_478102.2:p.Ala84Thr
NM_058197.5:c.*129_*130delinsTA NP_478104.2:n.*129_*130delinsTA