Canonical Allele Identifier: CA645552440
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971015_21971016insT , CM000671.2:g.21971015_21971016insT GRCh38
NC_000009.11:g.21971014_21971015insT , CM000671.1:g.21971014_21971015insT GRCh37
NC_000009.10:g.21961014_21961015insT NCBI36
NG_007485.1:g.28476_28477insA , LRG_11:g.28476_28477insA

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.343_344insA MANE Select ENSP00000307101.5:p.Val115AspfsTer5
ENST00000404796.3:c.348-58418_348-58417insT ENSP00000385916.2:n.348-58418_348-58417in...
ENST00000579755.2:c.386_387insA MANE Plus Clinical ENSP00000462950.1:p.Gly130TrpfsTer?
ENST00000304494.9:c.343_344insA ENSP00000307101.5:p.Val115AspfsTer5
ENST00000361570.4:c.385_386insA ENSP00000355153.4:p.Val129AspfsTer5
ENST00000380150.2:n.317_318insA
ENST00000380151.3:c.617_618insA ENSP00000369496.3:n.617_618insA
ENST00000404796.2:c.348-58418_348-58417insT ENSP00000385916.2:n.348-58418_348-58417in...
ENST00000479692.2:c.190_191insA ENSP00000466887.1:p.Val64AspfsTer5
ENST00000494262.5:c.190_191insA ENSP00000464952.1:p.Val64AspfsTer5
ENST00000497750.1:c.190_191insA ENSP00000468510.1:p.Val64AspfsTer5
ENST00000498124.1:c.343_344insA ENSP00000418915.1:p.Val115AspfsTer5
ENST00000498628.6:c.190_191insA ENSP00000467857.1:p.Val64AspfsTer5
ENST00000530628.2:c.386_387insA ENSP00000432664.2:p.Gly130TrpfsTer18
ENST00000578845.2:c.190_191insA ENSP00000467390.1:p.Val64AspfsTer5
ENST00000579122.1:c.343_344insA ENSP00000464202.1:p.Val115AspfsTer5
ENST00000579755.1:c.386_387insA ENSP00000462950.1:p.Gly130TrpfsTer?
NM_000077.4:c.343_344insA , LRG_11t1:c.343_344insA NP_000068.1:p.Val115AspfsTer5
NM_001195132.1:c.343_344insA NP_001182061.1:p.Val115AspfsTer5
NM_058195.3:c.386_387insA , LRG_11t2:c.386_387insA NP_478102.2:p.Gly130TrpfsTer?
NM_058197.4:c.617_618insA NP_478104.2:n.617_618insA
XM_005251343.1:c.190_191insA XP_005251400.1:p.Val64AspfsTer5
XM_011517675.1:c.343_344insA XP_011515977.1:p.Val115AspfsTer5
XM_011517676.1:c.343_344insA XP_011515978.1:p.Val115AspfsTer5
XM_011517679.1:c.190_191insA XP_011515981.1:p.Val64AspfsTer5
XR_929159.1:n.744_745insA
XR_929161.1:n.533_534insA
XR_929162.1:n.533_534insA
XR_929163.1:n.482_483insA
XR_929164.1:n.265_266insA
NM_001363763.1:c.190_191insA NP_001350692.1:p.Val64AspfsTer5
XM_011517675.2:c.343_344insA XP_011515977.1:p.Val115AspfsTer5
XM_011517676.2:c.343_344insA XP_011515978.1:p.Val115AspfsTer5
XR_929159.2:n.673_674insA
NM_001363763.2:c.190_191insA NP_001350692.1:p.Val64AspfsTer5
NM_000077.5:c.343_344insA MANE Select NP_000068.1:p.Val115AspfsTer5
NM_001195132.2:c.343_344insA NP_001182061.1:p.Val115AspfsTer5
NM_058195.4:c.386_387insA MANE Plus Clinical NP_478102.2:p.Gly130TrpfsTer?
NM_058197.5:c.*266_*267insA NP_478104.2:n.*266_*267insA