Canonical Allele Identifier: CA1839178691
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988536_21988537delinsCT , CM000671.2:g.21988536_21988537delinsCT GRCh38
NC_000009.11:g.21988535_21988536delinsCT , CM000671.1:g.21988535_21988536delinsCT GRCh37
NC_000009.10:g.21978535_21978536delinsCT NCBI36
NG_007485.1:g.10955_10956delinsAG , LRG_11:g.10955_10956delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40897_348-40896delinsCT ENSP00000385916.2:n.348-40897_348-40896delinsCT
ENST00000579755.2:c.193+5602_193+5603delinsAG MANE Plus Clinical ENSP00000462950.1:n.193+5602_193+5603delinsAG
ENST00000361570.4:c.193+5602_193+5603delinsAG ENSP00000355153.4:n.193+5602_193+5603delinsAG
ENST00000404796.2:c.348-40897_348-40896delinsCT ENSP00000385916.2:n.348-40897_348-40896delinsCT
ENST00000494262.5:c.-4+5345_-4+5346delinsAG ENSP00000464952.1:n.-4+5345_-4+5346delinsAG
ENST00000498628.6:c.-4+6284_-4+6285delinsAG ENSP00000467857.1:n.-4+6284_-4+6285delinsAG
ENST00000530628.2:c.193+5602_193+5603delinsAG ENSP00000432664.2:n.193+5602_193+5603delinsAG
ENST00000579755.1:c.193+5602_193+5603delinsAG ENSP00000462950.1:n.193+5602_193+5603delinsAG
NM_058195.3:c.193+5602_193+5603delinsAG , LRG_11t2:c.193+5602_193+5603delinsAG NP_478102.2:n.193+5602_193+5603delinsAG
XM_011517678.1:c.*1393_*1394delinsAG XP_011515980.1:n.*1393_*1394delinsAG
XM_011517679.1:c.-4+6284_-4+6285delinsAG XP_011515981.1:n.-4+6284_-4+6285delinsAG
XR_929161.1:n.340+5602_340+5603delinsAG
XR_929162.1:n.340+5602_340+5603delinsAG
XR_929163.1:n.289+5602_289+5603delinsAG
NM_001363763.1:c.-4+6284_-4+6285delinsAG NP_001350692.1:n.-4+6284_-4+6285delinsAG
NM_001363763.2:c.-4+6284_-4+6285delinsAG NP_001350692.1:n.-4+6284_-4+6285delinsAG
NM_058195.4:c.193+5602_193+5603delinsAG MANE Plus Clinical NP_478102.2:n.193+5602_193+5603delinsAG