Canonical Allele Identifier: CA915947487

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 656963
• ClinVar RCV Id: RCV000813492
• dbSNP Id: rs1587340512

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974816_21974829del , CM000671.2:g.21974816_21974829del	GRCh38
NC_000009.11:g.21974815_21974828del , CM000671.1:g.21974815_21974828del	GRCh37
NC_000009.10:g.21964815_21964828del	NCBI36
NG_007485.1:g.24665_24678del , LRG_11:g.24665_24678del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.1_14del MANE Select	ENSP00000307101.5:p.Met1GlyfsTer9
ENST00000404796.3:c.348-54617_348-54604del	ENSP00000385916.2:n.348-54617_348-54604del
ENST00000579755.2:c.194-3619_194-3606del MANE Plus Clinical	ENSP00000462950.1:n.194-3619_194-3606del
ENST00000304494.9:c.1_14del	ENSP00000307101.5:p.Met1GlyfsTer9
ENST00000361570.4:c.194-3619_194-3606del	ENSP00000355153.4:n.194-3619_194-3606del
ENST00000404796.2:c.348-54617_348-54604del	ENSP00000385916.2:n.348-54617_348-54604del
ENST00000494262.5:c.-3-3619_-3-3606del	ENSP00000464952.1:n.-3-3619_-3-3606del
ENST00000498124.1:c.1_14del	ENSP00000418915.1:p.Met1GlyfsTer9
ENST00000498628.6:c.-3-3619_-3-3606del	ENSP00000467857.1:n.-3-3619_-3-3606del
ENST00000530628.2:c.194-3619_194-3606del	ENSP00000432664.2:n.194-3619_194-3606del
ENST00000579122.1:c.1_14del	ENSP00000464202.1:p.Met1GlyfsTer9
ENST00000579755.1:c.194-3619_194-3606del	ENSP00000462950.1:n.194-3619_194-3606del
NM_000077.4:c.1_14del , LRG_11t1:c.1_14del	NP_000068.1:p.Met1GlyfsTer9
NM_001195132.1:c.1_14del	NP_001182061.1:p.Met1GlyfsTer9
NM_058195.3:c.194-3619_194-3606del , LRG_11t2:c.194-3619_194-3606del	NP_478102.2:n.194-3619_194-3606del
XM_011517675.1:c.1_14del	XP_011515977.1:p.Met1GlyfsTer9
XM_011517676.1:c.1_14del	XP_011515978.1:p.Met1GlyfsTer9
XM_011517679.1:c.-3-3619_-3-3606del	XP_011515981.1:n.-3-3619_-3-3606del
XR_929159.1:n.402_415del
XR_929161.1:n.341-3619_341-3606del
XR_929162.1:n.341-3619_341-3606del
XR_929163.1:n.290-3619_290-3606del
NM_001363763.1:c.-3-3619_-3-3606del	NP_001350692.1:n.-3-3619_-3-3606del
XM_011517675.2:c.1_14del	XP_011515977.1:p.Met1GlyfsTer9
XM_011517676.2:c.1_14del	XP_011515978.1:p.Met1GlyfsTer9
XR_929159.2:n.331_344del
NM_001363763.2:c.-3-3619_-3-3606del	NP_001350692.1:n.-3-3619_-3-3606del
NM_000077.5:c.1_14del MANE Select	NP_000068.1:p.Met1GlyfsTer9
NM_001195132.2:c.1_14del	NP_001182061.1:p.Met1GlyfsTer9
NM_058195.4:c.194-3619_194-3606del MANE Plus Clinical	NP_478102.2:n.194-3619_194-3606del
NM_058197.5:c.1_14del	NP_478104.2:p.Met1GlyfsTer9