Canonical Allele Identifier: CA2580080347

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1752844
• ClinVar RCV Id: RCV002353994

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974705_21974706delinsA , CM000671.2:g.21974705_21974706delinsA	GRCh38
NC_000009.11:g.21974704_21974705delinsA , CM000671.1:g.21974704_21974705delinsA	GRCh37
NC_000009.10:g.21964704_21964705delinsA	NCBI36
NG_007485.1:g.24786_24787delinsT , LRG_11:g.24786_24787delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.122_123delinsT MANE Select	ENSP00000307101.5:p.Pro41LeufsTer12
ENST00000404796.3:c.348-54728_348-54727delinsA	ENSP00000385916.2:n.348-54728_348-54727delinsA
ENST00000579755.2:c.194-3498_194-3497delinsT MANE Plus Clinical	ENSP00000462950.1:n.194-3498_194-3497delinsT
ENST00000304494.9:c.122_123delinsT	ENSP00000307101.5:p.Pro41LeufsTer12
ENST00000361570.4:c.194-3498_194-3497delinsT	ENSP00000355153.4:n.194-3498_194-3497delinsT
ENST00000380151.3:c.122_123delinsT	ENSP00000369496.3:p.Pro41LeufsTer?
ENST00000404796.2:c.348-54728_348-54727delinsA	ENSP00000385916.2:n.348-54728_348-54727delinsA
ENST00000494262.5:c.-3-3498_-3-3497delinsT	ENSP00000464952.1:n.-3-3498_-3-3497delinsT
ENST00000498124.1:c.122_123delinsT	ENSP00000418915.1:p.Pro41LeufsTer12
ENST00000498628.6:c.-3-3498_-3-3497delinsT	ENSP00000467857.1:n.-3-3498_-3-3497delinsT
ENST00000530628.2:c.194-3498_194-3497delinsT	ENSP00000432664.2:n.194-3498_194-3497delinsT
ENST00000579122.1:c.122_123delinsT	ENSP00000464202.1:p.Pro41LeufsTer12
ENST00000579755.1:c.194-3498_194-3497delinsT	ENSP00000462950.1:n.194-3498_194-3497delinsT
NM_000077.4:c.122_123delinsT , LRG_11t1:c.122_123delinsT	NP_000068.1:p.Pro41LeufsTer12
NM_001195132.1:c.122_123delinsT	NP_001182061.1:p.Pro41LeufsTer12
NM_058195.3:c.194-3498_194-3497delinsT , LRG_11t2:c.194-3498_194-3497delinsT	NP_478102.2:n.194-3498_194-3497delinsT
NM_058197.4:c.122_123delinsT	NP_478104.2:p.Pro41LeufsTer?
XM_011517675.1:c.122_123delinsT	XP_011515977.1:p.Pro41LeufsTer12
XM_011517676.1:c.122_123delinsT	XP_011515978.1:p.Pro41LeufsTer12
XM_011517679.1:c.-3-3498_-3-3497delinsT	XP_011515981.1:n.-3-3498_-3-3497delinsT
XR_929159.1:n.523_524delinsT
XR_929161.1:n.341-3498_341-3497delinsT
XR_929162.1:n.341-3498_341-3497delinsT
XR_929163.1:n.290-3498_290-3497delinsT
NM_001363763.1:c.-3-3498_-3-3497delinsT	NP_001350692.1:n.-3-3498_-3-3497delinsT
XM_011517675.2:c.122_123delinsT	XP_011515977.1:p.Pro41LeufsTer12
XM_011517676.2:c.122_123delinsT	XP_011515978.1:p.Pro41LeufsTer12
XR_929159.2:n.452_453delinsT
NM_001363763.2:c.-3-3498_-3-3497delinsT	NP_001350692.1:n.-3-3498_-3-3497delinsT
NM_000077.5:c.122_123delinsT MANE Select	NP_000068.1:p.Pro41LeufsTer12
NM_001195132.2:c.122_123delinsT	NP_001182061.1:p.Pro41LeufsTer12
NM_058195.4:c.194-3498_194-3497delinsT MANE Plus Clinical	NP_478102.2:n.194-3498_194-3497delinsT
NM_058197.5:c.122_123delinsT	NP_478104.2:p.Pro41LeufsTer?