Canonical Allele Identifier: CA645552449
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM33795

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971031_21971032del , CM000671.2:g.21971031_21971032del GRCh38
NC_000009.11:g.21971030_21971031del , CM000671.1:g.21971030_21971031del GRCh37
NC_000009.10:g.21961030_21961031del NCBI36
NG_007485.1:g.28460_28461del , LRG_11:g.28460_28461del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.327_328del MANE Select ENSP00000307101.5:p.Trp110GlyfsTer9
ENST00000404796.3:c.348-58402_348-58401del ENSP00000385916.2:n.348-58402_348-58401de...
ENST00000579755.2:c.370_371del MANE Plus Clinical ENSP00000462950.1:p.Leu124GlyfsTer?
ENST00000304494.9:c.327_328del ENSP00000307101.5:p.Trp110GlyfsTer9
ENST00000361570.4:c.369_370del ENSP00000355153.4:p.Trp124GlyfsTer9
ENST00000380150.2:n.301_302del
ENST00000380151.3:c.601_602del ENSP00000369496.3:n.601_602del
ENST00000404796.2:c.348-58402_348-58401del ENSP00000385916.2:n.348-58402_348-58401de...
ENST00000479692.2:c.174_175del ENSP00000466887.1:p.Trp59GlyfsTer9
ENST00000494262.5:c.174_175del ENSP00000464952.1:p.Trp59GlyfsTer9
ENST00000497750.1:c.174_175del ENSP00000468510.1:p.Trp59GlyfsTer9
ENST00000498124.1:c.327_328del ENSP00000418915.1:p.Trp110GlyfsTer9
ENST00000498628.6:c.174_175del ENSP00000467857.1:p.Trp59GlyfsTer9
ENST00000530628.2:c.370_371del ENSP00000432664.2:p.Leu124GlyfsTer23
ENST00000578845.2:c.174_175del ENSP00000467390.1:p.Trp59GlyfsTer9
ENST00000579122.1:c.327_328del ENSP00000464202.1:p.Trp110GlyfsTer9
ENST00000579755.1:c.370_371del ENSP00000462950.1:p.Leu124GlyfsTer?
NM_000077.4:c.327_328del , LRG_11t1:c.327_328del NP_000068.1:p.Trp110GlyfsTer9
NM_001195132.1:c.327_328del NP_001182061.1:p.Trp110GlyfsTer9
NM_058195.3:c.370_371del , LRG_11t2:c.370_371del NP_478102.2:p.Leu124GlyfsTer?
NM_058197.4:c.601_602del NP_478104.2:n.601_602del
XM_005251343.1:c.174_175del XP_005251400.1:p.Trp59GlyfsTer9
XM_011517675.1:c.327_328del XP_011515977.1:p.Trp110GlyfsTer9
XM_011517676.1:c.327_328del XP_011515978.1:p.Trp110GlyfsTer9
XM_011517679.1:c.174_175del XP_011515981.1:p.Trp59GlyfsTer9
XR_929159.1:n.728_729del
XR_929161.1:n.517_518del
XR_929162.1:n.517_518del
XR_929163.1:n.466_467del
XR_929164.1:n.249_250del
NM_001363763.1:c.174_175del NP_001350692.1:p.Trp59GlyfsTer9
XM_011517675.2:c.327_328del XP_011515977.1:p.Trp110GlyfsTer9
XM_011517676.2:c.327_328del XP_011515978.1:p.Trp110GlyfsTer9
XR_929159.2:n.657_658del
NM_001363763.2:c.174_175del NP_001350692.1:p.Trp59GlyfsTer9
NM_000077.5:c.327_328del MANE Select NP_000068.1:p.Trp110GlyfsTer9
NM_001195132.2:c.327_328del NP_001182061.1:p.Trp110GlyfsTer9
NM_058195.4:c.370_371del MANE Plus Clinical NP_478102.2:p.Leu124GlyfsTer?
NM_058197.5:c.*250_*251del NP_478104.2:n.*250_*251del