Canonical Allele Identifier: CA645552594

Gene: CDKN2A

Linked Data

• COSMIC: COSM13671 ; COSM4564820 ; COSM4564821

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974680_21974681delinsAT , CM000671.2:g.21974680_21974681delinsAT	GRCh38
NC_000009.11:g.21974679_21974680delinsAT , CM000671.1:g.21974679_21974680delinsAT	GRCh37
NC_000009.10:g.21964679_21964680delinsAT	NCBI36
NG_007485.1:g.24811_24812delinsAT , LRG_11:g.24811_24812delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.147_148delinsAT MANE Select	ENSP00000307101.5:p.Ile50Ter
ENST00000404796.3:c.348-54753_348-54752delinsAT	ENSP00000385916.2:n.348-54753_348-54752delinsAT
ENST00000579755.2:c.194-3473_194-3472delinsAT MANE Plus Clinical	ENSP00000462950.1:n.194-3473_194-3472delinsAT
ENST00000304494.9:c.147_148delinsAT	ENSP00000307101.5:p.Ile50Ter
ENST00000361570.4:c.194-3473_194-3472delinsAT	ENSP00000355153.4:n.194-3473_194-3472delinsAT
ENST00000380151.3:c.147_148delinsAT	ENSP00000369496.3:p.Ile50Ter
ENST00000404796.2:c.348-54753_348-54752delinsAT	ENSP00000385916.2:n.348-54753_348-54752delinsAT
ENST00000494262.5:c.-3-3473_-3-3472delinsAT	ENSP00000464952.1:n.-3-3473_-3-3472delinsAT
ENST00000498124.1:c.147_148delinsAT	ENSP00000418915.1:p.Ile50Ter
ENST00000498628.6:c.-3-3473_-3-3472delinsAT	ENSP00000467857.1:n.-3-3473_-3-3472delinsAT
ENST00000530628.2:c.194-3473_194-3472delinsAT	ENSP00000432664.2:n.194-3473_194-3472delinsAT
ENST00000579122.1:c.147_148delinsAT	ENSP00000464202.1:p.Ile50Ter
ENST00000579755.1:c.194-3473_194-3472delinsAT	ENSP00000462950.1:n.194-3473_194-3472delinsAT
NM_000077.4:c.147_148delinsAT , LRG_11t1:c.147_148delinsAT	NP_000068.1:p.Ile50Ter
NM_001195132.1:c.147_148delinsAT	NP_001182061.1:p.Ile50Ter
NM_058195.3:c.194-3473_194-3472delinsAT , LRG_11t2:c.194-3473_194-3472delinsAT	NP_478102.2:n.194-3473_194-3472delinsAT
NM_058197.4:c.147_148delinsAT	NP_478104.2:p.Ile50Ter
XM_011517675.1:c.147_148delinsAT	XP_011515977.1:p.Ile50Ter
XM_011517676.1:c.147_148delinsAT	XP_011515978.1:p.Ile50Ter
XM_011517679.1:c.-3-3473_-3-3472delinsAT	XP_011515981.1:n.-3-3473_-3-3472delinsAT
XR_929159.1:n.548_549delinsAT
XR_929161.1:n.341-3473_341-3472delinsAT
XR_929162.1:n.341-3473_341-3472delinsAT
XR_929163.1:n.290-3473_290-3472delinsAT
NM_001363763.1:c.-3-3473_-3-3472delinsAT	NP_001350692.1:n.-3-3473_-3-3472delinsAT
XM_011517675.2:c.147_148delinsAT	XP_011515977.1:p.Ile50Ter
XM_011517676.2:c.147_148delinsAT	XP_011515978.1:p.Ile50Ter
XR_929159.2:n.477_478delinsAT
NM_001363763.2:c.-3-3473_-3-3472delinsAT	NP_001350692.1:n.-3-3473_-3-3472delinsAT
NM_000077.5:c.147_148delinsAT MANE Select	NP_000068.1:p.Ile50Ter
NM_001195132.2:c.147_148delinsAT	NP_001182061.1:p.Ile50Ter
NM_058195.4:c.194-3473_194-3472delinsAT MANE Plus Clinical	NP_478102.2:n.194-3473_194-3472delinsAT
NM_058197.5:c.147_148delinsAT	NP_478104.2:p.Ile50Ter