Canonical Allele Identifier: CA16612781
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 406710
ClinVar RCV Id: RCV000465157 RCV000775814
dbSNP Id: rs1060501263
MyVariant Identifiers: chr9:g.21971000del (hg19) chr9:g.21971001del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971002del , CM000671.2:g.21971002del GRCh38
NC_000009.11:g.21971001del , CM000671.1:g.21971001del GRCh37
NC_000009.10:g.21961001del NCBI36
NG_007485.1:g.28491del , LRG_11:g.28491del

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.358del MANE Select ENSP00000307101.5:p.Glu120SerfsTer26
ENST00000404796.3:c.348-58431del ENSP00000385916.2:n.348-58431del
ENST00000579755.2:c.*2del MANE Plus Clinical ENSP00000462950.1:n.*2del
ENST00000304494.9:c.358del ENSP00000307101.5:p.Glu120SerfsTer26
ENST00000361570.4:c.400del ENSP00000355153.4:p.Glu134SerfsTer26
ENST00000380150.2:n.332del
ENST00000380151.3:c.632del ENSP00000369496.3:n.632del
ENST00000404796.2:c.348-58431del ENSP00000385916.2:n.348-58431del
ENST00000479692.2:c.205del ENSP00000466887.1:p.Glu69SerfsTer26
ENST00000494262.5:c.205del ENSP00000464952.1:p.Glu69SerfsTer26
ENST00000497750.1:c.205del ENSP00000468510.1:p.Glu69SerfsTer26
ENST00000498124.1:c.358del ENSP00000418915.1:p.Glu120SerfsTer26
ENST00000498628.6:c.205del ENSP00000467857.1:p.Glu69SerfsTer26
ENST00000530628.2:c.*2del ENSP00000432664.2:n.*2del
ENST00000578845.2:c.205del ENSP00000467390.1:p.Glu69SerfsTer26
ENST00000579122.1:c.358del ENSP00000464202.1:p.Glu120SerfsTer13
ENST00000579755.1:c.*2del ENSP00000462950.1:n.*2del
NM_000077.4:c.358del , LRG_11t1:c.358del NP_000068.1:p.Glu120SerfsTer26
NM_001195132.1:c.358del NP_001182061.1:p.Glu120SerfsTer26
NM_058195.3:c.*2del , LRG_11t2:c.*2del NP_478102.2:n.*2del
NM_058197.4:c.632del NP_478104.2:n.632del
XM_005251343.1:c.205del XP_005251400.1:p.Glu69SerfsTer26
XM_011517675.1:c.358del XP_011515977.1:p.Glu120SerfsTer26
XM_011517676.1:c.358del XP_011515978.1:p.Glu120SerfsTer26
XM_011517679.1:c.205del XP_011515981.1:p.Glu69SerfsTer26
XR_929159.1:n.759del
XR_929161.1:n.548del
XR_929162.1:n.548del
XR_929163.1:n.497del
XR_929164.1:n.280del
NM_001363763.1:c.205del NP_001350692.1:p.Glu69SerfsTer26
XM_011517675.2:c.358del XP_011515977.1:p.Glu120SerfsTer26
XM_011517676.2:c.358del XP_011515978.1:p.Glu120SerfsTer26
XR_929159.2:n.688del
NM_001363763.2:c.205del NP_001350692.1:p.Glu69SerfsTer26
NM_000077.5:c.358del MANE Select NP_000068.1:p.Glu120SerfsTer26
NM_001195132.2:c.358del NP_001182061.1:p.Glu120SerfsTer26
NM_058195.4:c.*2del MANE Plus Clinical NP_478102.2:n.*2del
NM_058197.5:c.*281del NP_478104.2:n.*281del
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