Canonical Allele Identifier: CA2695203250

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971035_21971050del , CM000671.2:g.21971035_21971050del	GRCh38
NC_000009.11:g.21971034_21971049del , CM000671.1:g.21971034_21971049del	GRCh37
NC_000009.10:g.21961034_21961049del	NCBI36
NG_007485.1:g.28444_28459del , LRG_11:g.28444_28459del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.311_326del MANE Select	ENSP00000307101.5:p.Leu104ProfsTer?
ENST00000404796.3:c.348-58398_348-58383del	ENSP00000385916.2:n.348-58398_348-58383de...
ENST00000579755.2:c.354_369del MANE Plus Clinical	ENSP00000462950.1:p.Gly119TrpfsTer?
ENST00000304494.9:c.311_326del	ENSP00000307101.5:p.Leu104ProfsTer?
ENST00000361570.4:c.353_368del	ENSP00000355153.4:p.Leu118ProfsTer?
ENST00000380150.2:n.285_300del
ENST00000380151.3:c.585_600del	ENSP00000369496.3:n.585_600del
ENST00000404796.2:c.348-58398_348-58383del	ENSP00000385916.2:n.348-58398_348-58383de...
ENST00000479692.2:c.158_173del	ENSP00000466887.1:p.Leu53ProfsTer?
ENST00000494262.5:c.158_173del	ENSP00000464952.1:p.Leu53ProfsTer?
ENST00000497750.1:c.158_173del	ENSP00000468510.1:p.Leu53ProfsTer?
ENST00000498124.1:c.311_326del	ENSP00000418915.1:p.Leu104ProfsTer?
ENST00000498628.6:c.158_173del	ENSP00000467857.1:p.Leu53ProfsTer?
ENST00000530628.2:c.354_369del	ENSP00000432664.2:p.Gly119TrpfsTer?
ENST00000578845.2:c.158_173del	ENSP00000467390.1:p.Leu53ProfsTer?
ENST00000579122.1:c.311_326del	ENSP00000464202.1:p.Leu104ProfsTer24
ENST00000579755.1:c.354_369del	ENSP00000462950.1:p.Gly119TrpfsTer?
NM_000077.4:c.311_326del , LRG_11t1:c.311_326del	NP_000068.1:p.Leu104ProfsTer?
NM_001195132.1:c.311_326del	NP_001182061.1:p.Leu104ProfsTer?
NM_058195.3:c.354_369del , LRG_11t2:c.354_369del	NP_478102.2:p.Gly119TrpfsTer?
NM_058197.4:c.585_600del	NP_478104.2:n.585_600del
XM_005251343.1:c.158_173del	XP_005251400.1:p.Leu53ProfsTer?
XM_011517675.1:c.311_326del	XP_011515977.1:p.Leu104ProfsTer?
XM_011517676.1:c.311_326del	XP_011515978.1:p.Leu104ProfsTer?
XM_011517679.1:c.158_173del	XP_011515981.1:p.Leu53ProfsTer?
XR_929159.1:n.712_727del
XR_929161.1:n.501_516del
XR_929162.1:n.501_516del
XR_929163.1:n.450_465del
XR_929164.1:n.233_248del
NM_001363763.1:c.158_173del	NP_001350692.1:p.Leu53ProfsTer?
XM_011517675.2:c.311_326del	XP_011515977.1:p.Leu104ProfsTer?
XM_011517676.2:c.311_326del	XP_011515978.1:p.Leu104ProfsTer?
XR_929159.2:n.641_656del
NM_001363763.2:c.158_173del	NP_001350692.1:p.Leu53ProfsTer?
NM_000077.5:c.311_326del MANE Select	NP_000068.1:p.Leu104ProfsTer?
NM_001195132.2:c.311_326del	NP_001182061.1:p.Leu104ProfsTer?
NM_058195.4:c.354_369del MANE Plus Clinical	NP_478102.2:p.Gly119TrpfsTer?
NM_058197.5:c.*234_*249del	NP_478104.2:n.*234_*249del