Canonical Allele Identifier: CA2580080314

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1799155
• ClinVar RCV Id: RCV002444002

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971054_21971055delinsAA , CM000671.2:g.21971054_21971055delinsAA	GRCh38
NC_000009.11:g.21971053_21971054delinsAA , CM000671.1:g.21971053_21971054delinsAA	GRCh37
NC_000009.10:g.21961053_21961054delinsAA	NCBI36
NG_007485.1:g.28437_28438delinsTT , LRG_11:g.28437_28438delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.304_305delinsTT MANE Select	ENSP00000307101.5:p.Ala102Leu
ENST00000404796.3:c.348-58379_348-58378delinsAA	ENSP00000385916.2:n.348-58379_348-58378delinsAA
ENST00000579755.2:c.347_348delinsTT MANE Plus Clinical	ENSP00000462950.1:p.Gly116Val
ENST00000304494.9:c.304_305delinsTT	ENSP00000307101.5:p.Ala102Leu
ENST00000361570.4:c.346_347delinsTT	ENSP00000355153.4:p.Ala116Leu
ENST00000380150.2:n.278_279delinsTT
ENST00000380151.3:c.578_579delinsTT	ENSP00000369496.3:n.578_579delinsTT
ENST00000404796.2:c.348-58379_348-58378delinsAA	ENSP00000385916.2:n.348-58379_348-58378delinsAA
ENST00000479692.2:c.151_152delinsTT	ENSP00000466887.1:p.Ala51Leu
ENST00000494262.5:c.151_152delinsTT	ENSP00000464952.1:p.Ala51Leu
ENST00000497750.1:c.151_152delinsTT	ENSP00000468510.1:p.Ala51Leu
ENST00000498124.1:c.304_305delinsTT	ENSP00000418915.1:p.Ala102Leu
ENST00000498628.6:c.151_152delinsTT	ENSP00000467857.1:p.Ala51Leu
ENST00000530628.2:c.347_348delinsTT	ENSP00000432664.2:p.Gly116Val
ENST00000578845.2:c.151_152delinsTT	ENSP00000467390.1:p.Ala51Leu
ENST00000579122.1:c.304_305delinsTT	ENSP00000464202.1:p.Ala102Leu
ENST00000579755.1:c.347_348delinsTT	ENSP00000462950.1:p.Gly116Val
NM_000077.4:c.304_305delinsTT , LRG_11t1:c.304_305delinsTT	NP_000068.1:p.Ala102Leu
NM_001195132.1:c.304_305delinsTT	NP_001182061.1:p.Ala102Leu
NM_058195.3:c.347_348delinsTT , LRG_11t2:c.347_348delinsTT	NP_478102.2:p.Gly116Val
NM_058197.4:c.578_579delinsTT	NP_478104.2:n.578_579delinsTT
XM_005251343.1:c.151_152delinsTT	XP_005251400.1:p.Ala51Leu
XM_011517675.1:c.304_305delinsTT	XP_011515977.1:p.Ala102Leu
XM_011517676.1:c.304_305delinsTT	XP_011515978.1:p.Ala102Leu
XM_011517679.1:c.151_152delinsTT	XP_011515981.1:p.Ala51Leu
XR_929159.1:n.705_706delinsTT
XR_929161.1:n.494_495delinsTT
XR_929162.1:n.494_495delinsTT
XR_929163.1:n.443_444delinsTT
XR_929164.1:n.226_227delinsTT
NM_001363763.1:c.151_152delinsTT	NP_001350692.1:p.Ala51Leu
XM_011517675.2:c.304_305delinsTT	XP_011515977.1:p.Ala102Leu
XM_011517676.2:c.304_305delinsTT	XP_011515978.1:p.Ala102Leu
XR_929159.2:n.634_635delinsTT
NM_001363763.2:c.151_152delinsTT	NP_001350692.1:p.Ala51Leu
NM_000077.5:c.304_305delinsTT MANE Select	NP_000068.1:p.Ala102Leu
NM_001195132.2:c.304_305delinsTT	NP_001182061.1:p.Ala102Leu
NM_058195.4:c.347_348delinsTT MANE Plus Clinical	NP_478102.2:p.Gly116Val
NM_058197.5:c.*227_*228delinsTT	NP_478104.2:n.*227_*228delinsTT