Canonical Allele Identifier: CA2783190627
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21975064_21975065insACA , CM000671.2:g.21975064_21975065insACA GRCh38
NC_000009.11:g.21975063_21975064insACA , CM000671.1:g.21975063_21975064insACA GRCh37
NC_000009.10:g.21965063_21965064insACA NCBI36
NG_007485.1:g.24427_24428insTGT , LRG_11:g.24427_24428insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-54369_348-54368insACA ENSP00000385916.2:n.348-54369_348-54368insACA
ENST00000579755.2:c.194-3857_194-3856insTGT MANE Plus Clinical ENSP00000462950.1:n.194-3857_194-3856insTGT
ENST00000304494.9:c.-238_-237insTGT ENSP00000307101.5:n.-238_-237insTGT
ENST00000361570.4:c.194-3857_194-3856insTGT ENSP00000355153.4:n.194-3857_194-3856insTGT
ENST00000404796.2:c.348-54369_348-54368insACA ENSP00000385916.2:n.348-54369_348-54368insACA
ENST00000494262.5:c.-3-3857_-3-3856insTGT ENSP00000464952.1:n.-3-3857_-3-3856insTGT
ENST00000498628.6:c.-3-3857_-3-3856insTGT ENSP00000467857.1:n.-3-3857_-3-3856insTGT
ENST00000530628.2:c.194-3857_194-3856insTGT ENSP00000432664.2:n.194-3857_194-3856insTGT
ENST00000579755.1:c.194-3857_194-3856insTGT ENSP00000462950.1:n.194-3857_194-3856insTGT
NM_000077.4:c.-238_-237insTGT , LRG_11t1:c.-238_-237insTGT NP_000068.1:n.-238_-237insTGT
NM_001195132.1:c.-238_-237insTGT NP_001182061.1:n.-238_-237insTGT
NM_058195.3:c.194-3857_194-3856insTGT , LRG_11t2:c.194-3857_194-3856insTGT NP_478102.2:n.194-3857_194-3856insTGT
XM_011517675.1:c.-238_-237insTGT XP_011515977.1:n.-238_-237insTGT
XM_011517676.1:c.-238_-237insTGT XP_011515978.1:n.-238_-237insTGT
XM_011517679.1:c.-3-3857_-3-3856insTGT XP_011515981.1:n.-3-3857_-3-3856insTGT
XR_929159.1:n.164_165insTGT
XR_929161.1:n.341-3857_341-3856insTGT
XR_929162.1:n.341-3857_341-3856insTGT
XR_929163.1:n.290-3857_290-3856insTGT
NM_001363763.1:c.-3-3857_-3-3856insTGT NP_001350692.1:n.-3-3857_-3-3856insTGT
XM_011517675.2:c.-238_-237insTGT XP_011515977.1:n.-238_-237insTGT
XM_011517676.2:c.-238_-237insTGT XP_011515978.1:n.-238_-237insTGT
XR_929159.2:n.93_94insTGT
NM_001363763.2:c.-3-3857_-3-3856insTGT NP_001350692.1:n.-3-3857_-3-3856insTGT
NM_058195.4:c.194-3857_194-3856insTGT MANE Plus Clinical NP_478102.2:n.194-3857_194-3856insTGT