Canonical Allele Identifier: CA645552605

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2866820
• ClinVar RCV Id: RCV003746237
• COSMIC: COSM5760909 ; COSM5760910 ; COSM5760911

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974708del , CM000671.2:g.21974708del	GRCh38
NC_000009.11:g.21974707del , CM000671.1:g.21974707del	GRCh37
NC_000009.10:g.21964707del	NCBI36
NG_007485.1:g.24784del , LRG_11:g.24784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.120del MANE Select	ENSP00000307101.5:p.Pro41ArgfsTer12
ENST00000404796.3:c.348-54725del	ENSP00000385916.2:n.348-54725del
ENST00000579755.2:c.194-3500del MANE Plus Clinical	ENSP00000462950.1:n.194-3500del
ENST00000304494.9:c.120del	ENSP00000307101.5:p.Pro41ArgfsTer12
ENST00000361570.4:c.194-3500del	ENSP00000355153.4:n.194-3500del
ENST00000380151.3:c.120del	ENSP00000369496.3:p.Pro41ArgfsTer?
ENST00000404796.2:c.348-54725del	ENSP00000385916.2:n.348-54725del
ENST00000494262.5:c.-3-3500del	ENSP00000464952.1:n.-3-3500del
ENST00000498124.1:c.120del	ENSP00000418915.1:p.Pro41ArgfsTer12
ENST00000498628.6:c.-3-3500del	ENSP00000467857.1:n.-3-3500del
ENST00000530628.2:c.194-3500del	ENSP00000432664.2:n.194-3500del
ENST00000579122.1:c.120del	ENSP00000464202.1:p.Pro41ArgfsTer12
ENST00000579755.1:c.194-3500del	ENSP00000462950.1:n.194-3500del
NM_000077.4:c.120del , LRG_11t1:c.120del	NP_000068.1:p.Pro41ArgfsTer12
NM_001195132.1:c.120del	NP_001182061.1:p.Pro41ArgfsTer12
NM_058195.3:c.194-3500del , LRG_11t2:c.194-3500del	NP_478102.2:n.194-3500del
NM_058197.4:c.120del	NP_478104.2:p.Pro41ArgfsTer?
XM_011517675.1:c.120del	XP_011515977.1:p.Pro41ArgfsTer12
XM_011517676.1:c.120del	XP_011515978.1:p.Pro41ArgfsTer12
XM_011517679.1:c.-3-3500del	XP_011515981.1:n.-3-3500del
XR_929159.1:n.521del
XR_929161.1:n.341-3500del
XR_929162.1:n.341-3500del
XR_929163.1:n.290-3500del
NM_001363763.1:c.-3-3500del	NP_001350692.1:n.-3-3500del
XM_011517675.2:c.120del	XP_011515977.1:p.Pro41ArgfsTer12
XM_011517676.2:c.120del	XP_011515978.1:p.Pro41ArgfsTer12
XR_929159.2:n.450del
NM_001363763.2:c.-3-3500del	NP_001350692.1:n.-3-3500del
NM_000077.5:c.120del MANE Select	NP_000068.1:p.Pro41ArgfsTer12
NM_001195132.2:c.120del	NP_001182061.1:p.Pro41ArgfsTer12
NM_058195.4:c.194-3500del MANE Plus Clinical	NP_478102.2:n.194-3500del
NM_058197.5:c.120del	NP_478104.2:p.Pro41ArgfsTer?