Canonical Allele Identifier: CA1839178832
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21988874_21988879delinsAGACTC , CM000671.2:g.21988874_21988879delinsAGACTC GRCh38
NC_000009.11:g.21988873_21988878delinsAGACTC , CM000671.1:g.21988873_21988878delinsAGACTC GRCh37
NC_000009.10:g.21978873_21978878delinsAGACTC NCBI36
NG_007485.1:g.10613_10618delinsGAGTCT , LRG_11:g.10613_10618delinsGAGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40559_348-40554delinsAGACTC ENSP00000385916.2:n.348-40559_348-40554delinsAGACTC
ENST00000579755.2:c.193+5260_193+5265delinsGAGTCT MANE Plus Clinical ENSP00000462950.1:n.193+5260_193+5265delinsGAGTCT
ENST00000361570.4:c.193+5260_193+5265delinsGAGTCT ENSP00000355153.4:n.193+5260_193+5265delinsGAGTCT
ENST00000404796.2:c.348-40559_348-40554delinsAGACTC ENSP00000385916.2:n.348-40559_348-40554delinsAGACTC
ENST00000494262.5:c.-4+5003_-4+5008delinsGAGTCT ENSP00000464952.1:n.-4+5003_-4+5008delinsGAGTCT
ENST00000498628.6:c.-4+5942_-4+5947delinsGAGTCT ENSP00000467857.1:n.-4+5942_-4+5947delinsGAGTCT
ENST00000530628.2:c.193+5260_193+5265delinsGAGTCT ENSP00000432664.2:n.193+5260_193+5265delinsGAGTCT
ENST00000579755.1:c.193+5260_193+5265delinsGAGTCT ENSP00000462950.1:n.193+5260_193+5265delinsGAGTCT
NM_058195.3:c.193+5260_193+5265delinsGAGTCT , LRG_11t2:c.193+5260_193+5265delinsGAGTCT NP_478102.2:n.193+5260_193+5265delinsGAGTCT
XM_011517678.1:c.*1051_*1056delinsGAGTCT XP_011515980.1:n.*1051_*1056delinsGAGTCT
XM_011517679.1:c.-4+5942_-4+5947delinsGAGTCT XP_011515981.1:n.-4+5942_-4+5947delinsGAGTCT
XR_929161.1:n.340+5260_340+5265delinsGAGTCT
XR_929162.1:n.340+5260_340+5265delinsGAGTCT
XR_929163.1:n.289+5260_289+5265delinsGAGTCT
NM_001363763.1:c.-4+5942_-4+5947delinsGAGTCT NP_001350692.1:n.-4+5942_-4+5947delinsGAGTCT
NM_001363763.2:c.-4+5942_-4+5947delinsGAGTCT NP_001350692.1:n.-4+5942_-4+5947delinsGAGTCT
NM_058195.4:c.193+5260_193+5265delinsGAGTCT MANE Plus Clinical NP_478102.2:n.193+5260_193+5265delinsGAGTCT