Canonical Allele Identifier: CA645552632
Gene: CDKN2A HGNC NCBI

Linked Data

COSMIC: COSM13515

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974780_21974781insGTCGCC , CM000671.2:g.21974780_21974781insGTCGCC GRCh38
NC_000009.11:g.21974779_21974780insGTCGCC , CM000671.1:g.21974779_21974780insGTCGCC GRCh37
NC_000009.10:g.21964779_21964780insGTCGCC NCBI36
NG_007485.1:g.24714_24715insGACGGC , LRG_11:g.24714_24715insGACGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.50_51insGACGGC MANE Select ENSP00000307101.5:p.Ala17_Thr18insThrAla
ENST00000404796.3:c.348-54653_348-54652insGTCGCC ENSP00000385916.2:n.348-54653_348-54652insGTCGCC
ENST00000579755.2:c.194-3570_194-3569insGACGGC MANE Plus Clinical ENSP00000462950.1:n.194-3570_194-3569insGACGGC
ENST00000304494.9:c.50_51insGACGGC ENSP00000307101.5:p.Ala17_Thr18insThrAla
ENST00000361570.4:c.194-3570_194-3569insGACGGC ENSP00000355153.4:n.194-3570_194-3569insGACGGC
ENST00000380151.3:c.50_51insGACGGC ENSP00000369496.3:p.Ala17_Thr18insThrAla
ENST00000404796.2:c.348-54653_348-54652insGTCGCC ENSP00000385916.2:n.348-54653_348-54652insGTCGCC
ENST00000494262.5:c.-3-3570_-3-3569insGACGGC ENSP00000464952.1:n.-3-3570_-3-3569insGACGGC
ENST00000498124.1:c.50_51insGACGGC ENSP00000418915.1:p.Ala17_Thr18insThrAla
ENST00000498628.6:c.-3-3570_-3-3569insGACGGC ENSP00000467857.1:n.-3-3570_-3-3569insGACGGC
ENST00000530628.2:c.194-3570_194-3569insGACGGC ENSP00000432664.2:n.194-3570_194-3569insGACGGC
ENST00000579122.1:c.50_51insGACGGC ENSP00000464202.1:p.Ala17_Thr18insThrAla
ENST00000579755.1:c.194-3570_194-3569insGACGGC ENSP00000462950.1:n.194-3570_194-3569insGACGGC
NM_000077.4:c.50_51insGACGGC , LRG_11t1:c.50_51insGACGGC NP_000068.1:p.Ala17_Thr18insThrAla
NM_001195132.1:c.50_51insGACGGC NP_001182061.1:p.Ala17_Thr18insThrAla
NM_058195.3:c.194-3570_194-3569insGACGGC , LRG_11t2:c.194-3570_194-3569insGACGGC NP_478102.2:n.194-3570_194-3569insGACGGC
NM_058197.4:c.50_51insGACGGC NP_478104.2:p.Ala17_Thr18insThrAla
XM_011517675.1:c.50_51insGACGGC XP_011515977.1:p.Ala17_Thr18insThrAla
XM_011517676.1:c.50_51insGACGGC XP_011515978.1:p.Ala17_Thr18insThrAla
XM_011517679.1:c.-3-3570_-3-3569insGACGGC XP_011515981.1:n.-3-3570_-3-3569insGACGGC
XR_929159.1:n.451_452insGACGGC
XR_929161.1:n.341-3570_341-3569insGACGGC
XR_929162.1:n.341-3570_341-3569insGACGGC
XR_929163.1:n.290-3570_290-3569insGACGGC
NM_001363763.1:c.-3-3570_-3-3569insGACGGC NP_001350692.1:n.-3-3570_-3-3569insGACGGC
XM_011517675.2:c.50_51insGACGGC XP_011515977.1:p.Ala17_Thr18insThrAla
XM_011517676.2:c.50_51insGACGGC XP_011515978.1:p.Ala17_Thr18insThrAla
XR_929159.2:n.380_381insGACGGC
NM_001363763.2:c.-3-3570_-3-3569insGACGGC NP_001350692.1:n.-3-3570_-3-3569insGACGGC
NM_000077.5:c.50_51insGACGGC MANE Select NP_000068.1:p.Ala17_Thr18insThrAla
NM_001195132.2:c.50_51insGACGGC NP_001182061.1:p.Ala17_Thr18insThrAla
NM_058195.4:c.194-3570_194-3569insGACGGC MANE Plus Clinical NP_478102.2:n.194-3570_194-3569insGACGGC
NM_058197.5:c.50_51insGACGGC NP_478104.2:p.Ala17_Thr18insThrAla