Canonical Allele Identifier: CA645552426
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM99694

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970955_21970956insT , CM000671.2:g.21970955_21970956insT GRCh38
NC_000009.11:g.21970954_21970955insT , CM000671.1:g.21970954_21970955insT GRCh37
NC_000009.10:g.21960954_21960955insT NCBI36
NG_007485.1:g.28536_28537insA , LRG_11:g.28536_28537insA

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.403_404insA MANE Select ENSP00000307101.5:p.Gly135GlufsTer7
ENST00000404796.3:c.348-58478_348-58477insT ENSP00000385916.2:n.348-58478_348-58477in...
ENST00000579755.2:c.*47_*48insA MANE Plus Clinical ENSP00000462950.1:n.*47_*48insA
ENST00000304494.9:c.403_404insA ENSP00000307101.5:p.Gly135GlufsTer7
ENST00000361570.4:c.445_446insA ENSP00000355153.4:p.Gly149GlufsTer7
ENST00000380150.2:n.377_378insA
ENST00000380151.3:c.677_678insA ENSP00000369496.3:n.677_678insA
ENST00000404796.2:c.348-58478_348-58477insT ENSP00000385916.2:n.348-58478_348-58477in...
ENST00000479692.2:c.250_251insA ENSP00000466887.1:p.Gly84GlufsTer7
ENST00000494262.5:c.250_251insA ENSP00000464952.1:p.Gly84GlufsTer7
ENST00000497750.1:c.250_251insA ENSP00000468510.1:p.Gly84GlufsTer7
ENST00000498124.1:c.403_404insA ENSP00000418915.1:p.Gly135GlufsTer7
ENST00000498628.6:c.250_251insA ENSP00000467857.1:p.Gly84GlufsTer7
ENST00000530628.2:c.*27+20_*27+21insA ENSP00000432664.2:n.*27+20_*27+21insA
ENST00000578845.2:c.250_251insA ENSP00000467390.1:p.Gly84GlufsTer7
ENST00000579122.1:c.383+20_383+21insA ENSP00000464202.1:n.383+20_383+21insA
ENST00000579755.1:c.*47_*48insA ENSP00000462950.1:n.*47_*48insA
NM_000077.4:c.403_404insA , LRG_11t1:c.403_404insA NP_000068.1:p.Gly135GlufsTer7
NM_001195132.1:c.403_404insA NP_001182061.1:p.Gly135GlufsTer7
NM_058195.3:c.*47_*48insA , LRG_11t2:c.*47_*48insA NP_478102.2:n.*47_*48insA
NM_058197.4:c.677_678insA NP_478104.2:n.677_678insA
XM_005251343.1:c.250_251insA XP_005251400.1:p.Gly84GlufsTer7
XM_011517675.1:c.403_404insA XP_011515977.1:p.Gly135GlufsTer7
XM_011517676.1:c.403_404insA XP_011515978.1:p.Gly135GlufsTer7
XM_011517679.1:c.250_251insA XP_011515981.1:p.Gly84GlufsTer7
XR_929159.1:n.804_805insA
XR_929161.1:n.593_594insA
XR_929162.1:n.593_594insA
XR_929163.1:n.542_543insA
XR_929164.1:n.325_326insA
NM_001363763.1:c.250_251insA NP_001350692.1:p.Gly84GlufsTer7
XM_011517675.2:c.403_404insA XP_011515977.1:p.Gly135GlufsTer7
XM_011517676.2:c.403_404insA XP_011515978.1:p.Gly135GlufsTer7
XR_929159.2:n.733_734insA
NM_001363763.2:c.250_251insA NP_001350692.1:p.Gly84GlufsTer7
NM_000077.5:c.403_404insA MANE Select NP_000068.1:p.Gly135GlufsTer7
NM_001195132.2:c.403_404insA NP_001182061.1:p.Gly135GlufsTer7
NM_058195.4:c.*47_*48insA MANE Plus Clinical NP_478102.2:n.*47_*48insA
NM_058197.5:c.*326_*327insA NP_478104.2:n.*326_*327insA