Canonical Allele Identifier: CA2573143674

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1508121
• ClinVar RCV Id: RCV002009672
• dbSNP Id: rs2131114105

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974812_21974813delinsAG , CM000671.2:g.21974812_21974813delinsAG	GRCh38
NC_000009.11:g.21974811_21974812delinsAG , CM000671.1:g.21974811_21974812delinsAG	GRCh37
NC_000009.10:g.21964811_21964812delinsAG	NCBI36
NG_007485.1:g.24679_24680delinsCT , LRG_11:g.24679_24680delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.15_16delinsCT MANE Select	ENSP00000307101.5:p.Gly6Trp
ENST00000404796.3:c.348-54621_348-54620delinsAG	ENSP00000385916.2:n.348-54621_348-54620delinsAG
ENST00000579755.2:c.194-3605_194-3604delinsCT MANE Plus Clinical	ENSP00000462950.1:n.194-3605_194-3604delinsCT
ENST00000304494.9:c.15_16delinsCT	ENSP00000307101.5:p.Gly6Trp
ENST00000361570.4:c.194-3605_194-3604delinsCT	ENSP00000355153.4:n.194-3605_194-3604delinsCT
ENST00000380151.3:c.15_16delinsCT	ENSP00000369496.3:p.Gly6Trp
ENST00000404796.2:c.348-54621_348-54620delinsAG	ENSP00000385916.2:n.348-54621_348-54620delinsAG
ENST00000494262.5:c.-3-3605_-3-3604delinsCT	ENSP00000464952.1:n.-3-3605_-3-3604delinsCT
ENST00000498124.1:c.15_16delinsCT	ENSP00000418915.1:p.Gly6Trp
ENST00000498628.6:c.-3-3605_-3-3604delinsCT	ENSP00000467857.1:n.-3-3605_-3-3604delinsCT
ENST00000530628.2:c.194-3605_194-3604delinsCT	ENSP00000432664.2:n.194-3605_194-3604delinsCT
ENST00000579122.1:c.15_16delinsCT	ENSP00000464202.1:p.Gly6Trp
ENST00000579755.1:c.194-3605_194-3604delinsCT	ENSP00000462950.1:n.194-3605_194-3604delinsCT
NM_000077.4:c.15_16delinsCT , LRG_11t1:c.15_16delinsCT	NP_000068.1:p.Gly6Trp
NM_001195132.1:c.15_16delinsCT	NP_001182061.1:p.Gly6Trp
NM_058195.3:c.194-3605_194-3604delinsCT , LRG_11t2:c.194-3605_194-3604delinsCT	NP_478102.2:n.194-3605_194-3604delinsCT
NM_058197.4:c.15_16delinsCT	NP_478104.2:p.Gly6Trp
XM_011517675.1:c.15_16delinsCT	XP_011515977.1:p.Gly6Trp
XM_011517676.1:c.15_16delinsCT	XP_011515978.1:p.Gly6Trp
XM_011517679.1:c.-3-3605_-3-3604delinsCT	XP_011515981.1:n.-3-3605_-3-3604delinsCT
XR_929159.1:n.416_417delinsCT
XR_929161.1:n.341-3605_341-3604delinsCT
XR_929162.1:n.341-3605_341-3604delinsCT
XR_929163.1:n.290-3605_290-3604delinsCT
NM_001363763.1:c.-3-3605_-3-3604delinsCT	NP_001350692.1:n.-3-3605_-3-3604delinsCT
XM_011517675.2:c.15_16delinsCT	XP_011515977.1:p.Gly6Trp
XM_011517676.2:c.15_16delinsCT	XP_011515978.1:p.Gly6Trp
XR_929159.2:n.345_346delinsCT
NM_001363763.2:c.-3-3605_-3-3604delinsCT	NP_001350692.1:n.-3-3605_-3-3604delinsCT
NM_000077.5:c.15_16delinsCT MANE Select	NP_000068.1:p.Gly6Trp
NM_001195132.2:c.15_16delinsCT	NP_001182061.1:p.Gly6Trp
NM_058195.4:c.194-3605_194-3604delinsCT MANE Plus Clinical	NP_478102.2:n.194-3605_194-3604delinsCT
NM_058197.5:c.15_16delinsCT	NP_478104.2:p.Gly6Trp