Canonical Allele Identifier: CA2695210493
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974745dup , CM000671.2:g.21974745dup GRCh38
NC_000009.11:g.21974744dup , CM000671.1:g.21974744dup GRCh37
NC_000009.10:g.21964744dup NCBI36
NG_007485.1:g.24747dup , LRG_11:g.24747dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.83dup MANE Select ENSP00000307101.5:p.Arg29AlafsTer15
ENST00000404796.3:c.348-54688dup ENSP00000385916.2:n.348-54688dup
ENST00000579755.2:c.194-3537dup MANE Plus Clinical ENSP00000462950.1:n.194-3537dup
ENST00000304494.9:c.83dup ENSP00000307101.5:p.Arg29AlafsTer15
ENST00000361570.4:c.194-3537dup ENSP00000355153.4:n.194-3537dup
ENST00000380151.3:c.83dup ENSP00000369496.3:p.Arg29AlafsTer15
ENST00000404796.2:c.348-54688dup ENSP00000385916.2:n.348-54688dup
ENST00000494262.5:c.-3-3537dup ENSP00000464952.1:n.-3-3537dup
ENST00000498124.1:c.83dup ENSP00000418915.1:p.Arg29AlafsTer15
ENST00000498628.6:c.-3-3537dup ENSP00000467857.1:n.-3-3537dup
ENST00000530628.2:c.194-3537dup ENSP00000432664.2:n.194-3537dup
ENST00000579122.1:c.83dup ENSP00000464202.1:p.Arg29AlafsTer15
ENST00000579755.1:c.194-3537dup ENSP00000462950.1:n.194-3537dup
NM_000077.4:c.83dup , LRG_11t1:c.83dup NP_000068.1:p.Arg29AlafsTer15
NM_001195132.1:c.83dup NP_001182061.1:p.Arg29AlafsTer15
NM_058195.3:c.194-3537dup , LRG_11t2:c.194-3537dup NP_478102.2:n.194-3537dup
NM_058197.4:c.83dup NP_478104.2:p.Arg29AlafsTer15
XM_011517675.1:c.83dup XP_011515977.1:p.Arg29AlafsTer15
XM_011517676.1:c.83dup XP_011515978.1:p.Arg29AlafsTer15
XM_011517679.1:c.-3-3537dup XP_011515981.1:n.-3-3537dup
XR_929159.1:n.484dup
XR_929161.1:n.341-3537dup
XR_929162.1:n.341-3537dup
XR_929163.1:n.290-3537dup
NM_001363763.1:c.-3-3537dup NP_001350692.1:n.-3-3537dup
XM_011517675.2:c.83dup XP_011515977.1:p.Arg29AlafsTer15
XM_011517676.2:c.83dup XP_011515978.1:p.Arg29AlafsTer15
XR_929159.2:n.413dup
NM_001363763.2:c.-3-3537dup NP_001350692.1:n.-3-3537dup
NM_000077.5:c.83dup MANE Select NP_000068.1:p.Arg29AlafsTer15
NM_001195132.2:c.83dup NP_001182061.1:p.Arg29AlafsTer15
NM_058195.4:c.194-3537dup MANE Plus Clinical NP_478102.2:n.194-3537dup
NM_058197.5:c.83dup NP_478104.2:p.Arg29AlafsTer15