Canonical Allele Identifier: CA1839162513
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971180_21971181delinsGC , CM000671.2:g.21971180_21971181delinsGC GRCh38
NC_000009.11:g.21971179_21971180delinsGC , CM000671.1:g.21971179_21971180delinsGC GRCh37
NC_000009.10:g.21961179_21961180delinsGC NCBI36
NG_007485.1:g.28311_28312delinsGC , LRG_11:g.28311_28312delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.178_179delinsGC MANE Select ENSP00000307101.5:p.Ala60=
ENST00000404796.3:c.348-58253_348-58252delinsGC ENSP00000385916.2:n.348-58253_348-58252delinsGC
ENST00000579755.2:c.221_222delinsGC MANE Plus Clinical ENSP00000462950.1:p.Gly74=
ENST00000304494.9:c.178_179delinsGC ENSP00000307101.5:p.Ala60=
ENST00000361570.4:c.221_222delinsGC ENSP00000355153.4:p.Gly74=
ENST00000380150.2:n.152_153delinsGC
ENST00000380151.3:c.452_453delinsGC ENSP00000369496.3:n.452_453delinsGC
ENST00000404796.2:c.348-58253_348-58252delinsGC ENSP00000385916.2:n.348-58253_348-58252delinsGC
ENST00000479692.2:c.25_26delinsGC ENSP00000466887.1:p.Ala9=
ENST00000494262.5:c.25_26delinsGC ENSP00000464952.1:p.Ala9=
ENST00000497750.1:c.25_26delinsGC ENSP00000468510.1:p.Ala9=
ENST00000498124.1:c.178_179delinsGC ENSP00000418915.1:p.Ala60=
ENST00000498628.6:c.25_26delinsGC ENSP00000467857.1:p.Ala9=
ENST00000530628.2:c.221_222delinsGC ENSP00000432664.2:p.Gly74=
ENST00000578845.2:c.25_26delinsGC ENSP00000467390.1:p.Ala9=
ENST00000579122.1:c.178_179delinsGC ENSP00000464202.1:p.Ala60=
ENST00000579755.1:c.221_222delinsGC ENSP00000462950.1:p.Gly74=
NM_000077.4:c.178_179delinsGC , LRG_11t1:c.178_179delinsGC NP_000068.1:p.Ala60=
NM_001195132.1:c.178_179delinsGC NP_001182061.1:p.Ala60=
NM_058195.3:c.221_222delinsGC , LRG_11t2:c.221_222delinsGC NP_478102.2:p.Gly74=
NM_058197.4:c.452_453delinsGC NP_478104.2:n.452_453delinsGC
XM_005251343.1:c.25_26delinsGC XP_005251400.1:p.Ala9=
XM_011517675.1:c.178_179delinsGC XP_011515977.1:p.Ala60=
XM_011517676.1:c.178_179delinsGC XP_011515978.1:p.Ala60=
XM_011517679.1:c.25_26delinsGC XP_011515981.1:p.Ala9=
XR_929159.1:n.579_580delinsGC
XR_929161.1:n.368_369delinsGC
XR_929162.1:n.368_369delinsGC
XR_929163.1:n.317_318delinsGC
XR_929164.1:n.100_101delinsGC
NM_001363763.1:c.25_26delinsGC NP_001350692.1:p.Ala9=
XM_011517675.2:c.178_179delinsGC XP_011515977.1:p.Ala60=
XM_011517676.2:c.178_179delinsGC XP_011515978.1:p.Ala60=
XR_929159.2:n.508_509delinsGC
NM_001363763.2:c.25_26delinsGC NP_001350692.1:p.Ala9=
NM_000077.5:c.178_179delinsGC MANE Select NP_000068.1:p.Ala60=
NM_001195132.2:c.178_179delinsGC NP_001182061.1:p.Ala60=
NM_058195.4:c.221_222delinsGC MANE Plus Clinical NP_478102.2:p.Gly74=
NM_058197.5:c.*101_*102delinsGC NP_478104.2:n.*101_*102delinsGC