Canonical Allele Identifier: CA645552433

Gene: CDKN2A

Linked Data

• COSMIC: COSM1167817 ; COSM1167818

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970988_21970989dup , CM000671.2:g.21970988_21970989dup	GRCh38
NC_000009.11:g.21970987_21970988dup , CM000671.1:g.21970987_21970988dup	GRCh37
NC_000009.10:g.21960987_21960988dup	NCBI36
NG_007485.1:g.28505_28506dup , LRG_11:g.28505_28506dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.372_373dup MANE Select	ENSP00000307101.5:p.Asp125AlafsTer22
ENST00000404796.3:c.348-58445_348-58444dup	ENSP00000385916.2:n.348-58445_348-58444du...
ENST00000579755.2:c.*16_*17dup MANE Plus Clinical	ENSP00000462950.1:n.*16_*17dup
ENST00000304494.9:c.372_373dup	ENSP00000307101.5:p.Asp125AlafsTer22
ENST00000361570.4:c.414_415dup	ENSP00000355153.4:p.Asp139AlafsTer22
ENST00000380150.2:n.346_347dup
ENST00000380151.3:c.646_647dup	ENSP00000369496.3:n.646_647dup
ENST00000404796.2:c.348-58445_348-58444dup	ENSP00000385916.2:n.348-58445_348-58444du...
ENST00000479692.2:c.219_220dup	ENSP00000466887.1:p.Asp74AlafsTer22
ENST00000494262.5:c.219_220dup	ENSP00000464952.1:p.Asp74AlafsTer22
ENST00000497750.1:c.219_220dup	ENSP00000468510.1:p.Asp74AlafsTer22
ENST00000498124.1:c.372_373dup	ENSP00000418915.1:p.Asp125AlafsTer22
ENST00000498628.6:c.219_220dup	ENSP00000467857.1:p.Asp74AlafsTer22
ENST00000530628.2:c.*16_*17dup	ENSP00000432664.2:n.*16_*17dup
ENST00000578845.2:c.219_220dup	ENSP00000467390.1:p.Asp74AlafsTer22
ENST00000579122.1:c.372_373dup	ENSP00000464202.1:p.Asp125AlafsTer9
ENST00000579755.1:c.*16_*17dup	ENSP00000462950.1:n.*16_*17dup
NM_000077.4:c.372_373dup , LRG_11t1:c.372_373dup	NP_000068.1:p.Asp125AlafsTer22
NM_001195132.1:c.372_373dup	NP_001182061.1:p.Asp125AlafsTer22
NM_058195.3:c.*16_*17dup , LRG_11t2:c.*16_*17dup	NP_478102.2:n.*16_*17dup
NM_058197.4:c.646_647dup	NP_478104.2:n.646_647dup
XM_005251343.1:c.219_220dup	XP_005251400.1:p.Asp74AlafsTer22
XM_011517675.1:c.372_373dup	XP_011515977.1:p.Asp125AlafsTer22
XM_011517676.1:c.372_373dup	XP_011515978.1:p.Asp125AlafsTer22
XM_011517679.1:c.219_220dup	XP_011515981.1:p.Asp74AlafsTer22
XR_929159.1:n.773_774dup
XR_929161.1:n.562_563dup
XR_929162.1:n.562_563dup
XR_929163.1:n.511_512dup
XR_929164.1:n.294_295dup
NM_001363763.1:c.219_220dup	NP_001350692.1:p.Asp74AlafsTer22
XM_011517675.2:c.372_373dup	XP_011515977.1:p.Asp125AlafsTer22
XM_011517676.2:c.372_373dup	XP_011515978.1:p.Asp125AlafsTer22
XR_929159.2:n.702_703dup
NM_001363763.2:c.219_220dup	NP_001350692.1:p.Asp74AlafsTer22
NM_000077.5:c.372_373dup MANE Select	NP_000068.1:p.Asp125AlafsTer22
NM_001195132.2:c.372_373dup	NP_001182061.1:p.Asp125AlafsTer22
NM_058195.4:c.*16_*17dup MANE Plus Clinical	NP_478102.2:n.*16_*17dup
NM_058197.5:c.*295_*296dup	NP_478104.2:n.*295_*296dup