Canonical Allele Identifier: CA645552544

Gene: CDKN2A

Linked Data

• COSMIC: COSM4603904 ; COSM4603905 ; COSM4603906 ; COSM4603907

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971170_21971171insGCGC , CM000671.2:g.21971170_21971171insGCGC	GRCh38
NC_000009.11:g.21971169_21971170insGCGC , CM000671.1:g.21971169_21971170insGCGC	GRCh37
NC_000009.10:g.21961169_21961170insGCGC	NCBI36
NG_007485.1:g.28323_28324insGCGC , LRG_11:g.28323_28324insGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.190_191insGCGC MANE Select	ENSP00000307101.5:p.Leu64ArgfsTer?
ENST00000404796.3:c.348-58263_348-58262insGCGC	ENSP00000385916.2:n.348-58263_348-58262insGCGC
ENST00000579755.2:c.233_234insGCGC MANE Plus Clinical	ENSP00000462950.1:p.Ala79ArgfsTer?
ENST00000304494.9:c.190_191insGCGC	ENSP00000307101.5:p.Leu64ArgfsTer?
ENST00000361570.4:c.233_234insGCGC	ENSP00000355153.4:p.Ala79ArgfsTer?
ENST00000380150.2:n.164_165insGCGC
ENST00000380151.3:c.464_465insGCGC	ENSP00000369496.3:n.464_465insGCGC
ENST00000404796.2:c.348-58263_348-58262insGCGC	ENSP00000385916.2:n.348-58263_348-58262insGCGC
ENST00000479692.2:c.37_38insGCGC	ENSP00000466887.1:p.Leu13ArgfsTer?
ENST00000494262.5:c.37_38insGCGC	ENSP00000464952.1:p.Leu13ArgfsTer?
ENST00000497750.1:c.37_38insGCGC	ENSP00000468510.1:p.Leu13ArgfsTer?
ENST00000498124.1:c.190_191insGCGC	ENSP00000418915.1:p.Leu64ArgfsTer?
ENST00000498628.6:c.37_38insGCGC	ENSP00000467857.1:p.Leu13ArgfsTer?
ENST00000530628.2:c.233_234insGCGC	ENSP00000432664.2:p.Ala79ArgfsTer?
ENST00000578845.2:c.37_38insGCGC	ENSP00000467390.1:p.Leu13ArgfsTer?
ENST00000579122.1:c.190_191insGCGC	ENSP00000464202.1:p.Leu64ArgfsTer?
ENST00000579755.1:c.233_234insGCGC	ENSP00000462950.1:p.Ala79ArgfsTer?
NM_000077.4:c.190_191insGCGC , LRG_11t1:c.190_191insGCGC	NP_000068.1:p.Leu64ArgfsTer?
NM_001195132.1:c.190_191insGCGC	NP_001182061.1:p.Leu64ArgfsTer?
NM_058195.3:c.233_234insGCGC , LRG_11t2:c.233_234insGCGC	NP_478102.2:p.Ala79ArgfsTer?
NM_058197.4:c.464_465insGCGC	NP_478104.2:n.464_465insGCGC
XM_005251343.1:c.37_38insGCGC	XP_005251400.1:p.Leu13ArgfsTer?
XM_011517675.1:c.190_191insGCGC	XP_011515977.1:p.Leu64ArgfsTer?
XM_011517676.1:c.190_191insGCGC	XP_011515978.1:p.Leu64ArgfsTer?
XM_011517679.1:c.37_38insGCGC	XP_011515981.1:p.Leu13ArgfsTer?
XR_929159.1:n.591_592insGCGC
XR_929161.1:n.380_381insGCGC
XR_929162.1:n.380_381insGCGC
XR_929163.1:n.329_330insGCGC
XR_929164.1:n.112_113insGCGC
NM_001363763.1:c.37_38insGCGC	NP_001350692.1:p.Leu13ArgfsTer?
XM_011517675.2:c.190_191insGCGC	XP_011515977.1:p.Leu64ArgfsTer?
XM_011517676.2:c.190_191insGCGC	XP_011515978.1:p.Leu64ArgfsTer?
XR_929159.2:n.520_521insGCGC
NM_001363763.2:c.37_38insGCGC	NP_001350692.1:p.Leu13ArgfsTer?
NM_000077.5:c.190_191insGCGC MANE Select	NP_000068.1:p.Leu64ArgfsTer?
NM_001195132.2:c.190_191insGCGC	NP_001182061.1:p.Leu64ArgfsTer?
NM_058195.4:c.233_234insGCGC MANE Plus Clinical	NP_478102.2:p.Ala79ArgfsTer?
NM_058197.5:c.*113_*114insGCGC	NP_478104.2:n.*113_*114insGCGC