Canonical Allele Identifier: CA2573143726

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1494170
• ClinVar RCV Id: RCV001987043
• dbSNP Id: rs2131079518

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968240del , CM000671.2:g.21968240del	GRCh38
NC_000009.11:g.21968239del , CM000671.1:g.21968239del	GRCh37
NC_000009.10:g.21958239del	NCBI36
NG_007485.1:g.31252del , LRG_11:g.31252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.460del MANE Select	ENSP00000307101.5:p.Ile154SerfsTer?
ENST00000404796.3:c.348-61193del	ENSP00000385916.2:n.348-61193del
ENST00000579755.2:c.*104del MANE Plus Clinical	ENSP00000462950.1:n.*104del
ENST00000304494.9:c.460del	ENSP00000307101.5:p.Ile154SerfsTer?
ENST00000361570.4:c.502del	ENSP00000355153.4:p.Ile168SerfsTer?
ENST00000380151.3:c.734del	ENSP00000369496.3:n.734del
ENST00000404796.2:c.348-61193del	ENSP00000385916.2:n.348-61193del
ENST00000494262.5:c.307del	ENSP00000464952.1:p.Ile103SerfsTer?
ENST00000498124.1:c.*153del	ENSP00000418915.1:n.*153del
ENST00000498628.6:c.307del	ENSP00000467857.1:p.Ile103SerfsTer?
ENST00000530628.2:c.*30del	ENSP00000432664.2:n.*30del
ENST00000578845.2:c.307del	ENSP00000467390.1:p.Ile103SerfsTer?
ENST00000579122.1:c.386del	ENSP00000464202.1:p.His129LeufsTer4
ENST00000579755.1:c.*104del	ENSP00000462950.1:n.*104del
NM_000077.4:c.460del , LRG_11t1:c.460del	NP_000068.1:p.Ile154SerfsTer?
NM_001195132.1:c.*153del	NP_001182061.1:n.*153del
NM_058195.3:c.*104del , LRG_11t2:c.*104del	NP_478102.2:n.*104del
NM_058197.4:c.734del	NP_478104.2:n.734del
XM_005251343.1:c.307del	XP_005251400.1:p.Ile103SerfsTer?
XM_011517679.1:c.307del	XP_011515981.1:p.Ile103SerfsTer?
NM_001363763.1:c.307del	NP_001350692.1:p.Ile103SerfsTer?
NM_001363763.2:c.307del	NP_001350692.1:p.Ile103SerfsTer?
NM_000077.5:c.460del MANE Select	NP_000068.1:p.Ile154SerfsTer?
NM_001195132.2:c.*153del	NP_001182061.1:n.*153del
NM_058195.4:c.*104del MANE Plus Clinical	NP_478102.2:n.*104del
NM_058197.5:c.*383del	NP_478104.2:n.*383del