Canonical Allele Identifier: CA1839178763
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988714_21988719delinsCTTTGT , CM000671.2:g.21988714_21988719delinsCTTTGT GRCh38
NC_000009.11:g.21988713_21988718delinsCTTTGT , CM000671.1:g.21988713_21988718delinsCTTTGT GRCh37
NC_000009.10:g.21978713_21978718delinsCTTTGT NCBI36
NG_007485.1:g.10773_10778delinsACAAAG , LRG_11:g.10773_10778delinsACAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40719_348-40714delinsCTTTGT ENSP00000385916.2:n.348-40719_348-40714delinsCTTTGT
ENST00000579755.2:c.193+5420_193+5425delinsACAAAG MANE Plus Clinical ENSP00000462950.1:n.193+5420_193+5425delinsACAAAG
ENST00000361570.4:c.193+5420_193+5425delinsACAAAG ENSP00000355153.4:n.193+5420_193+5425delinsACAAAG
ENST00000404796.2:c.348-40719_348-40714delinsCTTTGT ENSP00000385916.2:n.348-40719_348-40714delinsCTTTGT
ENST00000494262.5:c.-4+5163_-4+5168delinsACAAAG ENSP00000464952.1:n.-4+5163_-4+5168delinsACAAAG
ENST00000498628.6:c.-4+6102_-4+6107delinsACAAAG ENSP00000467857.1:n.-4+6102_-4+6107delinsACAAAG
ENST00000530628.2:c.193+5420_193+5425delinsACAAAG ENSP00000432664.2:n.193+5420_193+5425delinsACAAAG
ENST00000579755.1:c.193+5420_193+5425delinsACAAAG ENSP00000462950.1:n.193+5420_193+5425delinsACAAAG
NM_058195.3:c.193+5420_193+5425delinsACAAAG , LRG_11t2:c.193+5420_193+5425delinsACAAAG NP_478102.2:n.193+5420_193+5425delinsACAAAG
XM_011517678.1:c.*1211_*1216delinsACAAAG XP_011515980.1:n.*1211_*1216delinsACAAAG
XM_011517679.1:c.-4+6102_-4+6107delinsACAAAG XP_011515981.1:n.-4+6102_-4+6107delinsACAAAG
XR_929161.1:n.340+5420_340+5425delinsACAAAG
XR_929162.1:n.340+5420_340+5425delinsACAAAG
XR_929163.1:n.289+5420_289+5425delinsACAAAG
NM_001363763.1:c.-4+6102_-4+6107delinsACAAAG NP_001350692.1:n.-4+6102_-4+6107delinsACAAAG
NM_001363763.2:c.-4+6102_-4+6107delinsACAAAG NP_001350692.1:n.-4+6102_-4+6107delinsACAAAG
NM_058195.4:c.193+5420_193+5425delinsACAAAG MANE Plus Clinical NP_478102.2:n.193+5420_193+5425delinsACAAAG