Canonical Allele Identifier: CA2695203248
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971007_21971008insA , CM000671.2:g.21971007_21971008insA GRCh38
NC_000009.11:g.21971006_21971007insA , CM000671.1:g.21971006_21971007insA GRCh37
NC_000009.10:g.21961006_21961007insA NCBI36
NG_007485.1:g.28484_28485insT , LRG_11:g.28484_28485insT

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.351_352insT MANE Select ENSP00000307101.5:p.Ala118CysfsTer2
ENST00000404796.3:c.348-58426_348-58425insA ENSP00000385916.2:n.348-58426_348-58425in...
ENST00000579755.2:c.394_395insT MANE Plus Clinical ENSP00000462950.1:p.Gly132ValfsTer29
ENST00000304494.9:c.351_352insT ENSP00000307101.5:p.Ala118CysfsTer2
ENST00000361570.4:c.393_394insT ENSP00000355153.4:p.Ala132CysfsTer2
ENST00000380150.2:n.325_326insT
ENST00000380151.3:c.625_626insT ENSP00000369496.3:n.625_626insT
ENST00000404796.2:c.348-58426_348-58425insA ENSP00000385916.2:n.348-58426_348-58425in...
ENST00000479692.2:c.198_199insT ENSP00000466887.1:p.Ala67CysfsTer2
ENST00000494262.5:c.198_199insT ENSP00000464952.1:p.Ala67CysfsTer2
ENST00000497750.1:c.198_199insT ENSP00000468510.1:p.Ala67CysfsTer2
ENST00000498124.1:c.351_352insT ENSP00000418915.1:p.Ala118CysfsTer2
ENST00000498628.6:c.198_199insT ENSP00000467857.1:p.Ala67CysfsTer2
ENST00000530628.2:c.394_395insT ENSP00000432664.2:p.Gly132ValfsTer16
ENST00000578845.2:c.198_199insT ENSP00000467390.1:p.Ala67CysfsTer2
ENST00000579122.1:c.351_352insT ENSP00000464202.1:p.Ala118CysfsTer2
ENST00000579755.1:c.394_395insT ENSP00000462950.1:p.Gly132ValfsTer29
NM_000077.4:c.351_352insT , LRG_11t1:c.351_352insT NP_000068.1:p.Ala118CysfsTer2
NM_001195132.1:c.351_352insT NP_001182061.1:p.Ala118CysfsTer2
NM_058195.3:c.394_395insT , LRG_11t2:c.394_395insT NP_478102.2:p.Gly132ValfsTer29
NM_058197.4:c.625_626insT NP_478104.2:n.625_626insT
XM_005251343.1:c.198_199insT XP_005251400.1:p.Ala67CysfsTer2
XM_011517675.1:c.351_352insT XP_011515977.1:p.Ala118CysfsTer2
XM_011517676.1:c.351_352insT XP_011515978.1:p.Ala118CysfsTer2
XM_011517679.1:c.198_199insT XP_011515981.1:p.Ala67CysfsTer2
XR_929159.1:n.752_753insT
XR_929161.1:n.541_542insT
XR_929162.1:n.541_542insT
XR_929163.1:n.490_491insT
XR_929164.1:n.273_274insT
NM_001363763.1:c.198_199insT NP_001350692.1:p.Ala67CysfsTer2
XM_011517675.2:c.351_352insT XP_011515977.1:p.Ala118CysfsTer2
XM_011517676.2:c.351_352insT XP_011515978.1:p.Ala118CysfsTer2
XR_929159.2:n.681_682insT
NM_001363763.2:c.198_199insT NP_001350692.1:p.Ala67CysfsTer2
NM_000077.5:c.351_352insT MANE Select NP_000068.1:p.Ala118CysfsTer2
NM_001195132.2:c.351_352insT NP_001182061.1:p.Ala118CysfsTer2
NM_058195.4:c.394_395insT MANE Plus Clinical NP_478102.2:p.Gly132ValfsTer29
NM_058197.5:c.*274_*275insT NP_478104.2:n.*274_*275insT