Canonical Allele Identifier: CA915744611

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1563889784
• gnomAD v2: 9-21971148-GGGCTCCGCGCCGTGGAGCA-G
• gnomAD v3: 9-21971149-GGGCTCCGCGCCGTGGAGCA-G
• gnomAD v4: 9-21971149-GGGCTCCGCGCCGTGGAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971151_21971169del , CM000671.2:g.21971151_21971169del	GRCh38
NC_000009.11:g.21971150_21971168del , CM000671.1:g.21971150_21971168del	GRCh37
NC_000009.10:g.21961150_21961168del	NCBI36
NG_007485.1:g.28324_28342del , LRG_11:g.28324_28342del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.191_209del MANE Select	ENSP00000307101.5:p.Leu64ProfsTer?
ENST00000404796.3:c.348-58282_348-58264del	ENSP00000385916.2:n.348-58282_348-58264del
ENST00000579755.2:c.234_252del MANE Plus Clinical	ENSP00000462950.1:p.Ala79AsnfsTer?
ENST00000304494.9:c.191_209del	ENSP00000307101.5:p.Leu64ProfsTer?
ENST00000361570.4:c.234_252del	ENSP00000355153.4:p.Ala79AsnfsTer?
ENST00000380150.2:n.165_183del
ENST00000380151.3:c.465_483del	ENSP00000369496.3:n.465_483del
ENST00000404796.2:c.348-58282_348-58264del	ENSP00000385916.2:n.348-58282_348-58264del
ENST00000479692.2:c.38_56del	ENSP00000466887.1:p.Leu13ProfsTer?
ENST00000494262.5:c.38_56del	ENSP00000464952.1:p.Leu13ProfsTer?
ENST00000497750.1:c.38_56del	ENSP00000468510.1:p.Leu13ProfsTer?
ENST00000498124.1:c.191_209del	ENSP00000418915.1:p.Leu64ProfsTer?
ENST00000498628.6:c.38_56del	ENSP00000467857.1:p.Leu13ProfsTer?
ENST00000530628.2:c.234_252del	ENSP00000432664.2:p.Ala79AsnfsTer?
ENST00000578845.2:c.38_56del	ENSP00000467390.1:p.Leu13ProfsTer?
ENST00000579122.1:c.191_209del	ENSP00000464202.1:p.Leu64ProfsTer?
ENST00000579755.1:c.234_252del	ENSP00000462950.1:p.Ala79AsnfsTer?
NM_000077.4:c.191_209del , LRG_11t1:c.191_209del	NP_000068.1:p.Leu64ProfsTer?
NM_001195132.1:c.191_209del	NP_001182061.1:p.Leu64ProfsTer?
NM_058195.3:c.234_252del , LRG_11t2:c.234_252del	NP_478102.2:p.Ala79AsnfsTer?
NM_058197.4:c.465_483del	NP_478104.2:n.465_483del
XM_005251343.1:c.38_56del	XP_005251400.1:p.Leu13ProfsTer?
XM_011517675.1:c.191_209del	XP_011515977.1:p.Leu64ProfsTer?
XM_011517676.1:c.191_209del	XP_011515978.1:p.Leu64ProfsTer?
XM_011517679.1:c.38_56del	XP_011515981.1:p.Leu13ProfsTer?
XR_929159.1:n.592_610del
XR_929161.1:n.381_399del
XR_929162.1:n.381_399del
XR_929163.1:n.330_348del
XR_929164.1:n.113_131del
NM_001363763.1:c.38_56del	NP_001350692.1:p.Leu13ProfsTer?
XM_011517675.2:c.191_209del	XP_011515977.1:p.Leu64ProfsTer?
XM_011517676.2:c.191_209del	XP_011515978.1:p.Leu64ProfsTer?
XR_929159.2:n.521_539del
NM_001363763.2:c.38_56del	NP_001350692.1:p.Leu13ProfsTer?
NM_000077.5:c.191_209del MANE Select	NP_000068.1:p.Leu64ProfsTer?
NM_001195132.2:c.191_209del	NP_001182061.1:p.Leu64ProfsTer?
NM_058195.4:c.234_252del MANE Plus Clinical	NP_478102.2:p.Ala79AsnfsTer?
NM_058197.5:c.*114_*132del	NP_478104.2:n.*114_*132del