Canonical Allele Identifier: CA2719024549
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131094396

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971075_21971076del , CM000671.2:g.21971075_21971076del GRCh38
NC_000009.11:g.21971074_21971075del , CM000671.1:g.21971074_21971075del GRCh37
NC_000009.10:g.21961074_21961075del NCBI36
NG_007485.1:g.28417_28418del , LRG_11:g.28417_28418del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.284_285del MANE Select ENSP00000307101.5:p.Val95GlyfsTer24
ENST00000404796.3:c.348-58358_348-58357del ENSP00000385916.2:n.348-58358_348-58357del
ENST00000579755.2:c.327_328del MANE Plus Clinical ENSP00000462950.1:p.Gly110CysfsTer?
ENST00000304494.9:c.284_285del ENSP00000307101.5:p.Val95GlyfsTer24
ENST00000361570.4:c.326_327del ENSP00000355153.4:p.Val109GlyfsTer24
ENST00000380150.2:n.258_259del
ENST00000380151.3:c.558_559del ENSP00000369496.3:n.558_559del
ENST00000404796.2:c.348-58358_348-58357del ENSP00000385916.2:n.348-58358_348-58357del
ENST00000479692.2:c.131_132del ENSP00000466887.1:p.Val44GlyfsTer24
ENST00000494262.5:c.131_132del ENSP00000464952.1:p.Val44GlyfsTer24
ENST00000497750.1:c.131_132del ENSP00000468510.1:p.Val44GlyfsTer24
ENST00000498124.1:c.284_285del ENSP00000418915.1:p.Val95GlyfsTer24
ENST00000498628.6:c.131_132del ENSP00000467857.1:p.Val44GlyfsTer24
ENST00000530628.2:c.327_328del ENSP00000432664.2:p.Gly110CysfsTer?
ENST00000578845.2:c.131_132del ENSP00000467390.1:p.Val44GlyfsTer24
ENST00000579122.1:c.284_285del ENSP00000464202.1:p.Val95GlyfsTer24
ENST00000579755.1:c.327_328del ENSP00000462950.1:p.Gly110CysfsTer?
NM_000077.4:c.284_285del , LRG_11t1:c.284_285del NP_000068.1:p.Val95GlyfsTer24
NM_001195132.1:c.284_285del NP_001182061.1:p.Val95GlyfsTer24
NM_058195.3:c.327_328del , LRG_11t2:c.327_328del NP_478102.2:p.Gly110CysfsTer?
NM_058197.4:c.558_559del NP_478104.2:n.558_559del
XM_005251343.1:c.131_132del XP_005251400.1:p.Val44GlyfsTer24
XM_011517675.1:c.284_285del XP_011515977.1:p.Val95GlyfsTer24
XM_011517676.1:c.284_285del XP_011515978.1:p.Val95GlyfsTer24
XM_011517679.1:c.131_132del XP_011515981.1:p.Val44GlyfsTer24
XR_929159.1:n.685_686del
XR_929161.1:n.474_475del
XR_929162.1:n.474_475del
XR_929163.1:n.423_424del
XR_929164.1:n.206_207del
NM_001363763.1:c.131_132del NP_001350692.1:p.Val44GlyfsTer24
XM_011517675.2:c.284_285del XP_011515977.1:p.Val95GlyfsTer24
XM_011517676.2:c.284_285del XP_011515978.1:p.Val95GlyfsTer24
XR_929159.2:n.614_615del
NM_001363763.2:c.131_132del NP_001350692.1:p.Val44GlyfsTer24
NM_000077.5:c.284_285del MANE Select NP_000068.1:p.Val95GlyfsTer24
NM_001195132.2:c.284_285del NP_001182061.1:p.Val95GlyfsTer24
NM_058195.4:c.327_328del MANE Plus Clinical NP_478102.2:p.Gly110CysfsTer?
NM_058197.5:c.*207_*208del NP_478104.2:n.*207_*208del