Canonical Allele Identifier: CA645552598

Gene: CDKN2A

Linked Data

• COSMIC: COSM13525

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974685_21974686delinsAA , CM000671.2:g.21974685_21974686delinsAA	GRCh38
NC_000009.11:g.21974684_21974685delinsAA , CM000671.1:g.21974684_21974685delinsAA	GRCh37
NC_000009.10:g.21964684_21964685delinsAA	NCBI36
NG_007485.1:g.24806_24807delinsTT , LRG_11:g.24806_24807delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.142_143delinsTT MANE Select	ENSP00000307101.5:p.Pro48Leu
ENST00000404796.3:c.348-54748_348-54747delinsAA	ENSP00000385916.2:n.348-54748_348-54747delinsAA
ENST00000579755.2:c.194-3478_194-3477delinsTT MANE Plus Clinical	ENSP00000462950.1:n.194-3478_194-3477delinsTT
ENST00000304494.9:c.142_143delinsTT	ENSP00000307101.5:p.Pro48Leu
ENST00000361570.4:c.194-3478_194-3477delinsTT	ENSP00000355153.4:n.194-3478_194-3477delinsTT
ENST00000380151.3:c.142_143delinsTT	ENSP00000369496.3:p.Pro48Leu
ENST00000404796.2:c.348-54748_348-54747delinsAA	ENSP00000385916.2:n.348-54748_348-54747delinsAA
ENST00000494262.5:c.-3-3478_-3-3477delinsTT	ENSP00000464952.1:n.-3-3478_-3-3477delinsTT
ENST00000498124.1:c.142_143delinsTT	ENSP00000418915.1:p.Pro48Leu
ENST00000498628.6:c.-3-3478_-3-3477delinsTT	ENSP00000467857.1:n.-3-3478_-3-3477delinsTT
ENST00000530628.2:c.194-3478_194-3477delinsTT	ENSP00000432664.2:n.194-3478_194-3477delinsTT
ENST00000579122.1:c.142_143delinsTT	ENSP00000464202.1:p.Pro48Leu
ENST00000579755.1:c.194-3478_194-3477delinsTT	ENSP00000462950.1:n.194-3478_194-3477delinsTT
NM_000077.4:c.142_143delinsTT , LRG_11t1:c.142_143delinsTT	NP_000068.1:p.Pro48Leu
NM_001195132.1:c.142_143delinsTT	NP_001182061.1:p.Pro48Leu
NM_058195.3:c.194-3478_194-3477delinsTT , LRG_11t2:c.194-3478_194-3477delinsTT	NP_478102.2:n.194-3478_194-3477delinsTT
NM_058197.4:c.142_143delinsTT	NP_478104.2:p.Pro48Leu
XM_011517675.1:c.142_143delinsTT	XP_011515977.1:p.Pro48Leu
XM_011517676.1:c.142_143delinsTT	XP_011515978.1:p.Pro48Leu
XM_011517679.1:c.-3-3478_-3-3477delinsTT	XP_011515981.1:n.-3-3478_-3-3477delinsTT
XR_929159.1:n.543_544delinsTT
XR_929161.1:n.341-3478_341-3477delinsTT
XR_929162.1:n.341-3478_341-3477delinsTT
XR_929163.1:n.290-3478_290-3477delinsTT
NM_001363763.1:c.-3-3478_-3-3477delinsTT	NP_001350692.1:n.-3-3478_-3-3477delinsTT
XM_011517675.2:c.142_143delinsTT	XP_011515977.1:p.Pro48Leu
XM_011517676.2:c.142_143delinsTT	XP_011515978.1:p.Pro48Leu
XR_929159.2:n.472_473delinsTT
NM_001363763.2:c.-3-3478_-3-3477delinsTT	NP_001350692.1:n.-3-3478_-3-3477delinsTT
NM_000077.5:c.142_143delinsTT MANE Select	NP_000068.1:p.Pro48Leu
NM_001195132.2:c.142_143delinsTT	NP_001182061.1:p.Pro48Leu
NM_058195.4:c.194-3478_194-3477delinsTT MANE Plus Clinical	NP_478102.2:n.194-3478_194-3477delinsTT
NM_058197.5:c.142_143delinsTT	NP_478104.2:p.Pro48Leu