Canonical Allele Identifier: CA645552456

Gene: CDKN2A

Linked Data

• COSMIC: COSM5634639 ; COSM5634640 ; COSM5634641 ; COSM5634642

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971051_21971052insCGCCC , CM000671.2:g.21971051_21971052insCGCCC	GRCh38
NC_000009.11:g.21971050_21971051insCGCCC , CM000671.1:g.21971050_21971051insCGCCC	GRCh37
NC_000009.10:g.21961050_21961051insCGCCC	NCBI36
NG_007485.1:g.28442_28443insGCGGG , LRG_11:g.28442_28443insGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.309_310insGCGGG MANE Select	ENSP00000307101.5:p.Leu104AlafsTer?
ENST00000404796.3:c.348-58382_348-58381insCGCCC	ENSP00000385916.2:n.348-58382_348-58381insCGCCC
ENST00000579755.2:c.352_353insGCGGG MANE Plus Clinical	ENSP00000462950.1:p.Ala118GlyfsTer?
ENST00000304494.9:c.309_310insGCGGG	ENSP00000307101.5:p.Leu104AlafsTer?
ENST00000361570.4:c.351_352insGCGGG	ENSP00000355153.4:p.Leu118AlafsTer?
ENST00000380150.2:n.283_284insGCGGG
ENST00000380151.3:c.583_584insGCGGG	ENSP00000369496.3:n.583_584insGCGGG
ENST00000404796.2:c.348-58382_348-58381insCGCCC	ENSP00000385916.2:n.348-58382_348-58381insCGCCC
ENST00000479692.2:c.156_157insGCGGG	ENSP00000466887.1:p.Leu53AlafsTer?
ENST00000494262.5:c.156_157insGCGGG	ENSP00000464952.1:p.Leu53AlafsTer?
ENST00000497750.1:c.156_157insGCGGG	ENSP00000468510.1:p.Leu53AlafsTer?
ENST00000498124.1:c.309_310insGCGGG	ENSP00000418915.1:p.Leu104AlafsTer?
ENST00000498628.6:c.156_157insGCGGG	ENSP00000467857.1:p.Leu53AlafsTer?
ENST00000530628.2:c.352_353insGCGGG	ENSP00000432664.2:p.Ala118GlyfsTer?
ENST00000578845.2:c.156_157insGCGGG	ENSP00000467390.1:p.Leu53AlafsTer?
ENST00000579122.1:c.309_310insGCGGG	ENSP00000464202.1:p.Leu104AlafsTer31
ENST00000579755.1:c.352_353insGCGGG	ENSP00000462950.1:p.Ala118GlyfsTer?
NM_000077.4:c.309_310insGCGGG , LRG_11t1:c.309_310insGCGGG	NP_000068.1:p.Leu104AlafsTer?
NM_001195132.1:c.309_310insGCGGG	NP_001182061.1:p.Leu104AlafsTer?
NM_058195.3:c.352_353insGCGGG , LRG_11t2:c.352_353insGCGGG	NP_478102.2:p.Ala118GlyfsTer?
NM_058197.4:c.583_584insGCGGG	NP_478104.2:n.583_584insGCGGG
XM_005251343.1:c.156_157insGCGGG	XP_005251400.1:p.Leu53AlafsTer?
XM_011517675.1:c.309_310insGCGGG	XP_011515977.1:p.Leu104AlafsTer?
XM_011517676.1:c.309_310insGCGGG	XP_011515978.1:p.Leu104AlafsTer?
XM_011517679.1:c.156_157insGCGGG	XP_011515981.1:p.Leu53AlafsTer?
XR_929159.1:n.710_711insGCGGG
XR_929161.1:n.499_500insGCGGG
XR_929162.1:n.499_500insGCGGG
XR_929163.1:n.448_449insGCGGG
XR_929164.1:n.231_232insGCGGG
NM_001363763.1:c.156_157insGCGGG	NP_001350692.1:p.Leu53AlafsTer?
XM_011517675.2:c.309_310insGCGGG	XP_011515977.1:p.Leu104AlafsTer?
XM_011517676.2:c.309_310insGCGGG	XP_011515978.1:p.Leu104AlafsTer?
XR_929159.2:n.639_640insGCGGG
NM_001363763.2:c.156_157insGCGGG	NP_001350692.1:p.Leu53AlafsTer?
NM_000077.5:c.309_310insGCGGG MANE Select	NP_000068.1:p.Leu104AlafsTer?
NM_001195132.2:c.309_310insGCGGG	NP_001182061.1:p.Leu104AlafsTer?
NM_058195.4:c.352_353insGCGGG MANE Plus Clinical	NP_478102.2:p.Ala118GlyfsTer?
NM_058197.5:c.*232_*233insGCGGG	NP_478104.2:n.*232_*233insGCGGG