Canonical Allele Identifier: CA10578843

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 230340
• ClinVar RCV Id: RCV000222672
• dbSNP Id: rs876658511
• MyVariant Identifiers: chr9:g.21971146_21971183del (hg19) ; chr9:g.21971147_21971184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971148_21971185del , CM000671.2:g.21971148_21971185del	GRCh38
NC_000009.11:g.21971147_21971184del , CM000671.1:g.21971147_21971184del	GRCh37
NC_000009.10:g.21961147_21961184del	NCBI36
NG_007485.1:g.28308_28345del , LRG_11:g.28308_28345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.175_212del MANE Select	ENSP00000307101.5:p.Val59LeufsTer?
ENST00000404796.3:c.348-58285_348-58248del	ENSP00000385916.2:n.348-58285_348-58248de...
ENST00000579755.2:c.218_255del MANE Plus Clinical	ENSP00000462950.1:p.Ser73ThrfsTer?
ENST00000304494.9:c.175_212del	ENSP00000307101.5:p.Val59LeufsTer?
ENST00000361570.4:c.218_255del	ENSP00000355153.4:p.Ser73ThrfsTer?
ENST00000380150.2:n.149_186del
ENST00000380151.3:c.449_486del	ENSP00000369496.3:n.449_486del
ENST00000404796.2:c.348-58285_348-58248del	ENSP00000385916.2:n.348-58285_348-58248de...
ENST00000479692.2:c.22_59del	ENSP00000466887.1:p.Val8LeufsTer?
ENST00000494262.5:c.22_59del	ENSP00000464952.1:p.Val8LeufsTer?
ENST00000497750.1:c.22_59del	ENSP00000468510.1:p.Val8LeufsTer?
ENST00000498124.1:c.175_212del	ENSP00000418915.1:p.Val59LeufsTer?
ENST00000498628.6:c.22_59del	ENSP00000467857.1:p.Val8LeufsTer?
ENST00000530628.2:c.218_255del	ENSP00000432664.2:p.Ser73ThrfsTer?
ENST00000578845.2:c.22_59del	ENSP00000467390.1:p.Val8LeufsTer?
ENST00000579122.1:c.175_212del	ENSP00000464202.1:p.Val59LeufsTer?
ENST00000579755.1:c.218_255del	ENSP00000462950.1:p.Ser73ThrfsTer?
NM_000077.4:c.175_212del , LRG_11t1:c.175_212del	NP_000068.1:p.Val59LeufsTer?
NM_001195132.1:c.175_212del	NP_001182061.1:p.Val59LeufsTer?
NM_058195.3:c.218_255del , LRG_11t2:c.218_255del	NP_478102.2:p.Ser73ThrfsTer?
NM_058197.4:c.449_486del	NP_478104.2:n.449_486del
XM_005251343.1:c.22_59del	XP_005251400.1:p.Val8LeufsTer?
XM_011517675.1:c.175_212del	XP_011515977.1:p.Val59LeufsTer?
XM_011517676.1:c.175_212del	XP_011515978.1:p.Val59LeufsTer?
XM_011517679.1:c.22_59del	XP_011515981.1:p.Val8LeufsTer?
XR_929159.1:n.576_613del
XR_929161.1:n.365_402del
XR_929162.1:n.365_402del
XR_929163.1:n.314_351del
XR_929164.1:n.97_134del
NM_001363763.1:c.22_59del	NP_001350692.1:p.Val8LeufsTer?
XM_011517675.2:c.175_212del	XP_011515977.1:p.Val59LeufsTer?
XM_011517676.2:c.175_212del	XP_011515978.1:p.Val59LeufsTer?
XR_929159.2:n.505_542del
NM_001363763.2:c.22_59del	NP_001350692.1:p.Val8LeufsTer?
NM_000077.5:c.175_212del MANE Select	NP_000068.1:p.Val59LeufsTer?
NM_001195132.2:c.175_212del	NP_001182061.1:p.Val59LeufsTer?
NM_058195.4:c.218_255del MANE Plus Clinical	NP_478102.2:p.Ser73ThrfsTer?
NM_058197.5:c.*98_*135del	NP_478104.2:n.*98_*135del