Canonical Allele Identifier: CA645552629
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13495

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974771_21974772insTGCGCGG , CM000671.2:g.21974771_21974772insTGCGCGG GRCh38
NC_000009.11:g.21974770_21974771insTGCGCGG , CM000671.1:g.21974770_21974771insTGCGCGG GRCh37
NC_000009.10:g.21964770_21964771insTGCGCGG NCBI36
NG_007485.1:g.24721_24722insCGCGCAC , LRG_11:g.24721_24722insCGCGCAC

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.57_58insCGCGCAC MANE Select ENSP00000307101.5:p.Ala20ArgfsTer26
ENST00000404796.3:c.348-54662_348-54661insTGCGCGG ENSP00000385916.2:n.348-54662_348-54661insTGCGCGG
ENST00000579755.2:c.194-3563_194-3562insCGCGCAC MANE Plus Clinical ENSP00000462950.1:n.194-3563_194-3562insCGCGCAC
ENST00000304494.9:c.57_58insCGCGCAC ENSP00000307101.5:p.Ala20ArgfsTer26
ENST00000361570.4:c.194-3563_194-3562insCGCGCAC ENSP00000355153.4:n.194-3563_194-3562insCGCGCAC
ENST00000380151.3:c.57_58insCGCGCAC ENSP00000369496.3:p.Ala20ArgfsTer26
ENST00000404796.2:c.348-54662_348-54661insTGCGCGG ENSP00000385916.2:n.348-54662_348-54661insTGCGCGG
ENST00000494262.5:c.-3-3563_-3-3562insCGCGCAC ENSP00000464952.1:n.-3-3563_-3-3562insCGCGCAC
ENST00000498124.1:c.57_58insCGCGCAC ENSP00000418915.1:p.Ala20ArgfsTer26
ENST00000498628.6:c.-3-3563_-3-3562insCGCGCAC ENSP00000467857.1:n.-3-3563_-3-3562insCGCGCAC
ENST00000530628.2:c.194-3563_194-3562insCGCGCAC ENSP00000432664.2:n.194-3563_194-3562insCGCGCAC
ENST00000579122.1:c.57_58insCGCGCAC ENSP00000464202.1:p.Ala20ArgfsTer26
ENST00000579755.1:c.194-3563_194-3562insCGCGCAC ENSP00000462950.1:n.194-3563_194-3562insCGCGCAC
NM_000077.4:c.57_58insCGCGCAC , LRG_11t1:c.57_58insCGCGCAC NP_000068.1:p.Ala20ArgfsTer26
NM_001195132.1:c.57_58insCGCGCAC NP_001182061.1:p.Ala20ArgfsTer26
NM_058195.3:c.194-3563_194-3562insCGCGCAC , LRG_11t2:c.194-3563_194-3562insCGCGCAC NP_478102.2:n.194-3563_194-3562insCGCGCAC
NM_058197.4:c.57_58insCGCGCAC NP_478104.2:p.Ala20ArgfsTer26
XM_011517675.1:c.57_58insCGCGCAC XP_011515977.1:p.Ala20ArgfsTer26
XM_011517676.1:c.57_58insCGCGCAC XP_011515978.1:p.Ala20ArgfsTer26
XM_011517679.1:c.-3-3563_-3-3562insCGCGCAC XP_011515981.1:n.-3-3563_-3-3562insCGCGCAC
XR_929159.1:n.458_459insCGCGCAC
XR_929161.1:n.341-3563_341-3562insCGCGCAC
XR_929162.1:n.341-3563_341-3562insCGCGCAC
XR_929163.1:n.290-3563_290-3562insCGCGCAC
NM_001363763.1:c.-3-3563_-3-3562insCGCGCAC NP_001350692.1:n.-3-3563_-3-3562insCGCGCAC
XM_011517675.2:c.57_58insCGCGCAC XP_011515977.1:p.Ala20ArgfsTer26
XM_011517676.2:c.57_58insCGCGCAC XP_011515978.1:p.Ala20ArgfsTer26
XR_929159.2:n.387_388insCGCGCAC
NM_001363763.2:c.-3-3563_-3-3562insCGCGCAC NP_001350692.1:n.-3-3563_-3-3562insCGCGCAC
NM_000077.5:c.57_58insCGCGCAC MANE Select NP_000068.1:p.Ala20ArgfsTer26
NM_001195132.2:c.57_58insCGCGCAC NP_001182061.1:p.Ala20ArgfsTer26
NM_058195.4:c.194-3563_194-3562insCGCGCAC MANE Plus Clinical NP_478102.2:n.194-3563_194-3562insCGCGCAC
NM_058197.5:c.57_58insCGCGCAC NP_478104.2:p.Ala20ArgfsTer26