Canonical Allele Identifier: CA2573053162
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1332505
ClinVar RCV Id: RCV001805551
dbSNP Id: rs2131114560

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974850_21974863del , CM000671.2:g.21974850_21974863del GRCh38
NC_000009.11:g.21974849_21974862del , CM000671.1:g.21974849_21974862del GRCh37
NC_000009.10:g.21964849_21964862del NCBI36
NG_007485.1:g.24630_24643del , LRG_11:g.24630_24643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-54583_348-54570del ENSP00000385916.2:n.348-54583_348-54570del
ENST00000579755.2:c.194-3654_194-3641del MANE Plus Clinical ENSP00000462950.1:n.194-3654_194-3641del
ENST00000304494.9:c.-35_-22del ENSP00000307101.5:n.-35_-22del
ENST00000361570.4:c.194-3654_194-3641del ENSP00000355153.4:n.194-3654_194-3641del
ENST00000404796.2:c.348-54583_348-54570del ENSP00000385916.2:n.348-54583_348-54570del
ENST00000494262.5:c.-3-3654_-3-3641del ENSP00000464952.1:n.-3-3654_-3-3641del
ENST00000498124.1:c.-35_-22del ENSP00000418915.1:n.-35_-22del
ENST00000498628.6:c.-3-3654_-3-3641del ENSP00000467857.1:n.-3-3654_-3-3641del
ENST00000530628.2:c.194-3654_194-3641del ENSP00000432664.2:n.194-3654_194-3641del
ENST00000579755.1:c.194-3654_194-3641del ENSP00000462950.1:n.194-3654_194-3641del
NM_000077.4:c.-35_-22del , LRG_11t1:c.-35_-22del NP_000068.1:n.-35_-22del
NM_001195132.1:c.-35_-22del NP_001182061.1:n.-35_-22del
NM_058195.3:c.194-3654_194-3641del , LRG_11t2:c.194-3654_194-3641del NP_478102.2:n.194-3654_194-3641del
XM_011517675.1:c.-35_-22del XP_011515977.1:n.-35_-22del
XM_011517676.1:c.-35_-22del XP_011515978.1:n.-35_-22del
XM_011517679.1:c.-3-3654_-3-3641del XP_011515981.1:n.-3-3654_-3-3641del
XR_929159.1:n.367_380del
XR_929161.1:n.341-3654_341-3641del
XR_929162.1:n.341-3654_341-3641del
XR_929163.1:n.290-3654_290-3641del
NM_001363763.1:c.-3-3654_-3-3641del NP_001350692.1:n.-3-3654_-3-3641del
XM_011517675.2:c.-35_-22del XP_011515977.1:n.-35_-22del
XM_011517676.2:c.-35_-22del XP_011515978.1:n.-35_-22del
XR_929159.2:n.296_309del
NM_001363763.2:c.-3-3654_-3-3641del NP_001350692.1:n.-3-3654_-3-3641del
NM_058195.4:c.194-3654_194-3641del MANE Plus Clinical NP_478102.2:n.194-3654_194-3641del