Canonical Allele Identifier: CA373086642
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1554656525

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974775_21974779del , CM000671.2:g.21974775_21974779del GRCh38
NC_000009.11:g.21974774_21974778del , CM000671.1:g.21974774_21974778del GRCh37
NC_000009.10:g.21964774_21964778del NCBI36
NG_007485.1:g.24714_24718del , LRG_11:g.24714_24718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.50_54del MANE Select ENSP00000307101.5:p.Ala17GlyfsTer25
ENST00000404796.3:c.348-54658_348-54654del ENSP00000385916.2:n.348-54658_348-54654del
ENST00000579755.2:c.194-3570_194-3566del MANE Plus Clinical ENSP00000462950.1:n.194-3570_194-3566del
ENST00000304494.9:c.50_54del ENSP00000307101.5:p.Ala17GlyfsTer25
ENST00000361570.4:c.194-3570_194-3566del ENSP00000355153.4:n.194-3570_194-3566del
ENST00000380151.3:c.50_54del ENSP00000369496.3:p.Ala17GlyfsTer25
ENST00000404796.2:c.348-54658_348-54654del ENSP00000385916.2:n.348-54658_348-54654del
ENST00000494262.5:c.-3-3570_-3-3566del ENSP00000464952.1:n.-3-3570_-3-3566del
ENST00000498124.1:c.50_54del ENSP00000418915.1:p.Ala17GlyfsTer25
ENST00000498628.6:c.-3-3570_-3-3566del ENSP00000467857.1:n.-3-3570_-3-3566del
ENST00000530628.2:c.194-3570_194-3566del ENSP00000432664.2:n.194-3570_194-3566del
ENST00000579122.1:c.50_54del ENSP00000464202.1:p.Ala17GlyfsTer25
ENST00000579755.1:c.194-3570_194-3566del ENSP00000462950.1:n.194-3570_194-3566del
NM_000077.4:c.50_54del , LRG_11t1:c.50_54del NP_000068.1:p.Ala17GlyfsTer25
NM_001195132.1:c.50_54del NP_001182061.1:p.Ala17GlyfsTer25
NM_058195.3:c.194-3570_194-3566del , LRG_11t2:c.194-3570_194-3566del NP_478102.2:n.194-3570_194-3566del
NM_058197.4:c.50_54del NP_478104.2:p.Ala17GlyfsTer25
XM_011517675.1:c.50_54del XP_011515977.1:p.Ala17GlyfsTer25
XM_011517676.1:c.50_54del XP_011515978.1:p.Ala17GlyfsTer25
XM_011517679.1:c.-3-3570_-3-3566del XP_011515981.1:n.-3-3570_-3-3566del
XR_929159.1:n.451_455del
XR_929161.1:n.341-3570_341-3566del
XR_929162.1:n.341-3570_341-3566del
XR_929163.1:n.290-3570_290-3566del
NM_001363763.1:c.-3-3570_-3-3566del NP_001350692.1:n.-3-3570_-3-3566del
XM_011517675.2:c.50_54del XP_011515977.1:p.Ala17GlyfsTer25
XM_011517676.2:c.50_54del XP_011515978.1:p.Ala17GlyfsTer25
XR_929159.2:n.380_384del
NM_001363763.2:c.-3-3570_-3-3566del NP_001350692.1:n.-3-3570_-3-3566del
NM_000077.5:c.50_54del MANE Select NP_000068.1:p.Ala17GlyfsTer25
NM_001195132.2:c.50_54del NP_001182061.1:p.Ala17GlyfsTer25
NM_058195.4:c.194-3570_194-3566del MANE Plus Clinical NP_478102.2:n.194-3570_194-3566del
NM_058197.5:c.50_54del NP_478104.2:p.Ala17GlyfsTer25