Canonical Allele Identifier: CA1839161637
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971075_21971076delinsAC , CM000671.2:g.21971075_21971076delinsAC GRCh38
NC_000009.11:g.21971074_21971075delinsAC , CM000671.1:g.21971074_21971075delinsAC GRCh37
NC_000009.10:g.21961074_21961075delinsAC NCBI36
NG_007485.1:g.28416_28417delinsGT , LRG_11:g.28416_28417delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.283_284delinsGT MANE Select ENSP00000307101.5:p.Val95=
ENST00000404796.3:c.348-58358_348-58357delinsAC ENSP00000385916.2:n.348-58358_348-58357de...
ENST00000579755.2:c.326_327delinsGT MANE Plus Clinical ENSP00000462950.1:p.Gly109=
ENST00000304494.9:c.283_284delinsGT ENSP00000307101.5:p.Val95=
ENST00000361570.4:c.325_326delinsGT ENSP00000355153.4:p.Val109=
ENST00000380150.2:n.257_258delinsGT
ENST00000380151.3:c.557_558delinsGT ENSP00000369496.3:n.557_558delinsGT
ENST00000404796.2:c.348-58358_348-58357delinsAC ENSP00000385916.2:n.348-58358_348-58357de...
ENST00000479692.2:c.130_131delinsGT ENSP00000466887.1:p.Val44=
ENST00000494262.5:c.130_131delinsGT ENSP00000464952.1:p.Val44=
ENST00000497750.1:c.130_131delinsGT ENSP00000468510.1:p.Val44=
ENST00000498124.1:c.283_284delinsGT ENSP00000418915.1:p.Val95=
ENST00000498628.6:c.130_131delinsGT ENSP00000467857.1:p.Val44=
ENST00000530628.2:c.326_327delinsGT ENSP00000432664.2:p.Gly109=
ENST00000578845.2:c.130_131delinsGT ENSP00000467390.1:p.Val44=
ENST00000579122.1:c.283_284delinsGT ENSP00000464202.1:p.Val95=
ENST00000579755.1:c.326_327delinsGT ENSP00000462950.1:p.Gly109=
NM_000077.4:c.283_284delinsGT , LRG_11t1:c.283_284delinsGT NP_000068.1:p.Val95=
NM_001195132.1:c.283_284delinsGT NP_001182061.1:p.Val95=
NM_058195.3:c.326_327delinsGT , LRG_11t2:c.326_327delinsGT NP_478102.2:p.Gly109=
NM_058197.4:c.557_558delinsGT NP_478104.2:n.557_558delinsGT
XM_005251343.1:c.130_131delinsGT XP_005251400.1:p.Val44=
XM_011517675.1:c.283_284delinsGT XP_011515977.1:p.Val95=
XM_011517676.1:c.283_284delinsGT XP_011515978.1:p.Val95=
XM_011517679.1:c.130_131delinsGT XP_011515981.1:p.Val44=
XR_929159.1:n.684_685delinsGT
XR_929161.1:n.473_474delinsGT
XR_929162.1:n.473_474delinsGT
XR_929163.1:n.422_423delinsGT
XR_929164.1:n.205_206delinsGT
NM_001363763.1:c.130_131delinsGT NP_001350692.1:p.Val44=
XM_011517675.2:c.283_284delinsGT XP_011515977.1:p.Val95=
XM_011517676.2:c.283_284delinsGT XP_011515978.1:p.Val95=
XR_929159.2:n.613_614delinsGT
NM_001363763.2:c.130_131delinsGT NP_001350692.1:p.Val44=
NM_000077.5:c.283_284delinsGT MANE Select NP_000068.1:p.Val95=
NM_001195132.2:c.283_284delinsGT NP_001182061.1:p.Val95=
NM_058195.4:c.326_327delinsGT MANE Plus Clinical NP_478102.2:p.Gly109=
NM_058197.5:c.*206_*207delinsGT NP_478104.2:n.*206_*207delinsGT