Canonical Allele Identifier: CA645552448

Gene: CDKN2A

Linked Data

• COSMIC: COSM13701

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971029_21971030delinsTT , CM000671.2:g.21971029_21971030delinsTT	GRCh38
NC_000009.11:g.21971028_21971029delinsTT , CM000671.1:g.21971028_21971029delinsTT	GRCh37
NC_000009.10:g.21961028_21961029delinsTT	NCBI36
NG_007485.1:g.28462_28463delinsAA , LRG_11:g.28462_28463delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.329_330delinsAA MANE Select	ENSP00000307101.5:p.Trp110Ter
ENST00000404796.3:c.348-58404_348-58403delinsTT	ENSP00000385916.2:n.348-58404_348-58403de...
ENST00000579755.2:c.372_373delinsAA MANE Plus Clinical	ENSP00000462950.1:p.Gly125Arg
ENST00000304494.9:c.329_330delinsAA	ENSP00000307101.5:p.Trp110Ter
ENST00000361570.4:c.371_372delinsAA	ENSP00000355153.4:p.Trp124Ter
ENST00000380150.2:n.303_304delinsAA
ENST00000380151.3:c.603_604delinsAA	ENSP00000369496.3:n.603_604delinsAA
ENST00000404796.2:c.348-58404_348-58403delinsTT	ENSP00000385916.2:n.348-58404_348-58403de...
ENST00000479692.2:c.176_177delinsAA	ENSP00000466887.1:p.Trp59Ter
ENST00000494262.5:c.176_177delinsAA	ENSP00000464952.1:p.Trp59Ter
ENST00000497750.1:c.176_177delinsAA	ENSP00000468510.1:p.Trp59Ter
ENST00000498124.1:c.329_330delinsAA	ENSP00000418915.1:p.Trp110Ter
ENST00000498628.6:c.176_177delinsAA	ENSP00000467857.1:p.Trp59Ter
ENST00000530628.2:c.372_373delinsAA	ENSP00000432664.2:p.Gly125Arg
ENST00000578845.2:c.176_177delinsAA	ENSP00000467390.1:p.Trp59Ter
ENST00000579122.1:c.329_330delinsAA	ENSP00000464202.1:p.Trp110Ter
ENST00000579755.1:c.372_373delinsAA	ENSP00000462950.1:p.Gly125Arg
NM_000077.4:c.329_330delinsAA , LRG_11t1:c.329_330delinsAA	NP_000068.1:p.Trp110Ter
NM_001195132.1:c.329_330delinsAA	NP_001182061.1:p.Trp110Ter
NM_058195.3:c.372_373delinsAA , LRG_11t2:c.372_373delinsAA	NP_478102.2:p.Gly125Arg
NM_058197.4:c.603_604delinsAA	NP_478104.2:n.603_604delinsAA
XM_005251343.1:c.176_177delinsAA	XP_005251400.1:p.Trp59Ter
XM_011517675.1:c.329_330delinsAA	XP_011515977.1:p.Trp110Ter
XM_011517676.1:c.329_330delinsAA	XP_011515978.1:p.Trp110Ter
XM_011517679.1:c.176_177delinsAA	XP_011515981.1:p.Trp59Ter
XR_929159.1:n.730_731delinsAA
XR_929161.1:n.519_520delinsAA
XR_929162.1:n.519_520delinsAA
XR_929163.1:n.468_469delinsAA
XR_929164.1:n.251_252delinsAA
NM_001363763.1:c.176_177delinsAA	NP_001350692.1:p.Trp59Ter
XM_011517675.2:c.329_330delinsAA	XP_011515977.1:p.Trp110Ter
XM_011517676.2:c.329_330delinsAA	XP_011515978.1:p.Trp110Ter
XR_929159.2:n.659_660delinsAA
NM_001363763.2:c.176_177delinsAA	NP_001350692.1:p.Trp59Ter
NM_000077.5:c.329_330delinsAA MANE Select	NP_000068.1:p.Trp110Ter
NM_001195132.2:c.329_330delinsAA	NP_001182061.1:p.Trp110Ter
NM_058195.4:c.372_373delinsAA MANE Plus Clinical	NP_478102.2:p.Gly125Arg
NM_058197.5:c.*252_*253delinsAA	NP_478104.2:n.*252_*253delinsAA