Canonical Allele Identifier: CA587106859

Gene: CDKN2A

Linked Data

• gnomAD v2: 9-21971142-GCAGTT-G
• MyVariant Identifiers: chr9:g.21971143_21971147del (hg19) ; chr9:g.21971144_21971148del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971144_21971148del , CM000671.2:g.21971144_21971148del	GRCh38
NC_000009.11:g.21971143_21971147del , CM000671.1:g.21971143_21971147del	GRCh37
NC_000009.10:g.21961143_21961147del	NCBI36
NG_007485.1:g.28344_28348del , LRG_11:g.28344_28348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.211_215del MANE Select	ENSP00000307101.5:p.Asn71ArgfsTer?
ENST00000404796.3:c.348-58289_348-58285del	ENSP00000385916.2:n.348-58289_348-58285del
ENST00000579755.2:c.254_258del MANE Plus Clinical	ENSP00000462950.1:p.Gln85ProfsTer?
ENST00000304494.9:c.211_215del	ENSP00000307101.5:p.Asn71ArgfsTer?
ENST00000361570.4:c.254_258del	ENSP00000355153.4:p.Gln85ProfsTer?
ENST00000380150.2:n.185_189del
ENST00000380151.3:c.485_489del	ENSP00000369496.3:n.485_489del
ENST00000404796.2:c.348-58289_348-58285del	ENSP00000385916.2:n.348-58289_348-58285del
ENST00000479692.2:c.58_62del	ENSP00000466887.1:p.Asn20ArgfsTer?
ENST00000494262.5:c.58_62del	ENSP00000464952.1:p.Asn20ArgfsTer?
ENST00000497750.1:c.58_62del	ENSP00000468510.1:p.Asn20ArgfsTer?
ENST00000498124.1:c.211_215del	ENSP00000418915.1:p.Asn71ArgfsTer?
ENST00000498628.6:c.58_62del	ENSP00000467857.1:p.Asn20ArgfsTer?
ENST00000530628.2:c.254_258del	ENSP00000432664.2:p.Gln85ProfsTer?
ENST00000578845.2:c.58_62del	ENSP00000467390.1:p.Asn20ArgfsTer?
ENST00000579122.1:c.211_215del	ENSP00000464202.1:p.Asn71ArgfsTer?
ENST00000579755.1:c.254_258del	ENSP00000462950.1:p.Gln85ProfsTer?
NM_000077.4:c.211_215del , LRG_11t1:c.211_215del	NP_000068.1:p.Asn71ArgfsTer?
NM_001195132.1:c.211_215del	NP_001182061.1:p.Asn71ArgfsTer?
NM_058195.3:c.254_258del , LRG_11t2:c.254_258del	NP_478102.2:p.Gln85ProfsTer?
NM_058197.4:c.485_489del	NP_478104.2:n.485_489del
XM_005251343.1:c.58_62del	XP_005251400.1:p.Asn20ArgfsTer?
XM_011517675.1:c.211_215del	XP_011515977.1:p.Asn71ArgfsTer?
XM_011517676.1:c.211_215del	XP_011515978.1:p.Asn71ArgfsTer?
XM_011517679.1:c.58_62del	XP_011515981.1:p.Asn20ArgfsTer?
XR_929159.1:n.612_616del
XR_929161.1:n.401_405del
XR_929162.1:n.401_405del
XR_929163.1:n.350_354del
XR_929164.1:n.133_137del
NM_001363763.1:c.58_62del	NP_001350692.1:p.Asn20ArgfsTer?
XM_011517675.2:c.211_215del	XP_011515977.1:p.Asn71ArgfsTer?
XM_011517676.2:c.211_215del	XP_011515978.1:p.Asn71ArgfsTer?
XR_929159.2:n.541_545del
NM_001363763.2:c.58_62del	NP_001350692.1:p.Asn20ArgfsTer?
NM_000077.5:c.211_215del MANE Select	NP_000068.1:p.Asn71ArgfsTer?
NM_001195132.2:c.211_215del	NP_001182061.1:p.Asn71ArgfsTer?
NM_058195.4:c.254_258del MANE Plus Clinical	NP_478102.2:p.Gln85ProfsTer?
NM_058197.5:c.*134_*138del	NP_478104.2:n.*134_*138del