Canonical Allele Identifier: CA2689598770

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21971026-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971030del , CM000671.2:g.21971030del	GRCh38
NC_000009.11:g.21971029del , CM000671.1:g.21971029del	GRCh37
NC_000009.10:g.21961029del	NCBI36
NG_007485.1:g.28465del , LRG_11:g.28465del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.332del MANE Select	ENSP00000307101.5:p.Gly111AlafsTer?
ENST00000404796.3:c.348-58403del	ENSP00000385916.2:n.348-58403del
ENST00000579755.2:c.375del MANE Plus Clinical	ENSP00000462950.1:p.Pro126ArgfsTer?
ENST00000304494.9:c.332del	ENSP00000307101.5:p.Gly111AlafsTer?
ENST00000361570.4:c.374del	ENSP00000355153.4:p.Gly125AlafsTer?
ENST00000380150.2:n.306del
ENST00000380151.3:c.606del	ENSP00000369496.3:n.606del
ENST00000404796.2:c.348-58403del	ENSP00000385916.2:n.348-58403del
ENST00000479692.2:c.179del	ENSP00000466887.1:p.Gly60AlafsTer?
ENST00000494262.5:c.179del	ENSP00000464952.1:p.Gly60AlafsTer?
ENST00000497750.1:c.179del	ENSP00000468510.1:p.Gly60AlafsTer?
ENST00000498124.1:c.332del	ENSP00000418915.1:p.Gly111AlafsTer?
ENST00000498628.6:c.179del	ENSP00000467857.1:p.Gly60AlafsTer?
ENST00000530628.2:c.375del	ENSP00000432664.2:p.Pro126ArgfsTer28
ENST00000578845.2:c.179del	ENSP00000467390.1:p.Gly60AlafsTer?
ENST00000579122.1:c.332del	ENSP00000464202.1:p.Gly111AlafsTer22
ENST00000579755.1:c.375del	ENSP00000462950.1:p.Pro126ArgfsTer?
NM_000077.4:c.332del , LRG_11t1:c.332del	NP_000068.1:p.Gly111AlafsTer?
NM_001195132.1:c.332del	NP_001182061.1:p.Gly111AlafsTer?
NM_058195.3:c.375del , LRG_11t2:c.375del	NP_478102.2:p.Pro126ArgfsTer?
NM_058197.4:c.606del	NP_478104.2:n.606del
XM_005251343.1:c.179del	XP_005251400.1:p.Gly60AlafsTer?
XM_011517675.1:c.332del	XP_011515977.1:p.Gly111AlafsTer?
XM_011517676.1:c.332del	XP_011515978.1:p.Gly111AlafsTer?
XM_011517679.1:c.179del	XP_011515981.1:p.Gly60AlafsTer?
XR_929159.1:n.733del
XR_929161.1:n.522del
XR_929162.1:n.522del
XR_929163.1:n.471del
XR_929164.1:n.254del
NM_001363763.1:c.179del	NP_001350692.1:p.Gly60AlafsTer?
XM_011517675.2:c.332del	XP_011515977.1:p.Gly111AlafsTer?
XM_011517676.2:c.332del	XP_011515978.1:p.Gly111AlafsTer?
XR_929159.2:n.662del
NM_001363763.2:c.179del	NP_001350692.1:p.Gly60AlafsTer?
NM_000077.5:c.332del MANE Select	NP_000068.1:p.Gly111AlafsTer?
NM_001195132.2:c.332del	NP_001182061.1:p.Gly111AlafsTer?
NM_058195.4:c.375del MANE Plus Clinical	NP_478102.2:p.Pro126ArgfsTer?
NM_058197.5:c.*255del	NP_478104.2:n.*255del