Canonical Allele Identifier: CA2527933592
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988748_21988749insATC , CM000671.2:g.21988748_21988749insATC GRCh38
NC_000009.11:g.21988747_21988748insATC , CM000671.1:g.21988747_21988748insATC GRCh37
NC_000009.10:g.21978747_21978748insATC NCBI36
NG_007485.1:g.10744_10745insATG , LRG_11:g.10744_10745insATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40685_348-40684insATC ENSP00000385916.2:n.348-40685_348-40684insATC
ENST00000579755.2:c.193+5391_193+5392insATG MANE Plus Clinical ENSP00000462950.1:n.193+5391_193+5392insATG
ENST00000361570.4:c.193+5391_193+5392insATG ENSP00000355153.4:n.193+5391_193+5392insATG
ENST00000404796.2:c.348-40685_348-40684insATC ENSP00000385916.2:n.348-40685_348-40684insATC
ENST00000494262.5:c.-4+5134_-4+5135insATG ENSP00000464952.1:n.-4+5134_-4+5135insATG
ENST00000498628.6:c.-4+6073_-4+6074insATG ENSP00000467857.1:n.-4+6073_-4+6074insATG
ENST00000530628.2:c.193+5391_193+5392insATG ENSP00000432664.2:n.193+5391_193+5392insATG
ENST00000579755.1:c.193+5391_193+5392insATG ENSP00000462950.1:n.193+5391_193+5392insATG
NM_058195.3:c.193+5391_193+5392insATG , LRG_11t2:c.193+5391_193+5392insATG NP_478102.2:n.193+5391_193+5392insATG
XM_011517678.1:c.*1182_*1183insATG XP_011515980.1:n.*1182_*1183insATG
XM_011517679.1:c.-4+6073_-4+6074insATG XP_011515981.1:n.-4+6073_-4+6074insATG
XR_929161.1:n.340+5391_340+5392insATG
XR_929162.1:n.340+5391_340+5392insATG
XR_929163.1:n.289+5391_289+5392insATG
NM_001363763.1:c.-4+6073_-4+6074insATG NP_001350692.1:n.-4+6073_-4+6074insATG
NM_001363763.2:c.-4+6073_-4+6074insATG NP_001350692.1:n.-4+6073_-4+6074insATG
NM_058195.4:c.193+5391_193+5392insATG MANE Plus Clinical NP_478102.2:n.193+5391_193+5392insATG