Canonical Allele Identifier: CA336947

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 216277
• ClinVar RCV Id: RCV000197052 ; RCV000409781 ; RCV000566263 ; RCV000587112 ; RCV000709073 ; RCV001255216
• dbSNP Id: rs587780668
• ExAC: 9:21974794 AGGCTCCATGCTGCTCCCCGCCGCC / A
• gnomAD v2: 9-21974794-AGGCTCCATGCTGCTCCCCGCCGCC-A
• gnomAD v3: 9-21974795-AGGCTCCATGCTGCTCCCCGCCGCC-A
• gnomAD v4: 9-21974795-AGGCTCCATGCTGCTCCCCGCCGCC-A
• COSMIC: COSM13262 ; COSM13535
• MyVariant Identifiers: chr9:g.21974795_21974818del (hg19) ; chr9:g.21974796_21974819del (hg38)
• PubMed: PMID:10070944 ; PMID:11159196 ; PMID:12072543 ; PMID:12529334 ; PMID:16905682 ; PMID:17047042 ; PMID:19759551 ; PMID:20152798 ; PMID:21325014 ; PMID:25780468 ; PMID:25803691

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974820_21974843del , CM000671.2:g.21974820_21974843del	GRCh38
NC_000009.11:g.21974819_21974842del , CM000671.1:g.21974819_21974842del	GRCh37
NC_000009.10:g.21964819_21964842del	NCBI36
NG_007485.1:g.24673_24696del , LRG_11:g.24673_24696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.9_32del MANE Select	ENSP00000307101.5:p.Ala4_Pro11del
ENST00000404796.3:c.348-54613_348-54590del	ENSP00000385916.2:n.348-54613_348-54590del
ENST00000579755.2:c.194-3611_194-3588del MANE Plus Clinical	ENSP00000462950.1:n.194-3611_194-3588del
ENST00000304494.9:c.9_32del	ENSP00000307101.5:p.Ala4_Pro11del
ENST00000361570.4:c.194-3611_194-3588del	ENSP00000355153.4:n.194-3611_194-3588del
ENST00000404796.2:c.348-54613_348-54590del	ENSP00000385916.2:n.348-54613_348-54590del
ENST00000494262.5:c.-3-3611_-3-3588del	ENSP00000464952.1:n.-3-3611_-3-3588del
ENST00000498124.1:c.9_32del	ENSP00000418915.1:p.Ala4_Pro11del
ENST00000498628.6:c.-3-3611_-3-3588del	ENSP00000467857.1:n.-3-3611_-3-3588del
ENST00000530628.2:c.194-3611_194-3588del	ENSP00000432664.2:n.194-3611_194-3588del
ENST00000579122.1:c.9_32del	ENSP00000464202.1:p.Ala4_Pro11del
ENST00000579755.1:c.194-3611_194-3588del	ENSP00000462950.1:n.194-3611_194-3588del
NM_000077.4:c.9_32del , LRG_11t1:c.9_32del	NP_000068.1:p.Ala4_Pro11del
NM_001195132.1:c.9_32del	NP_001182061.1:p.Ala4_Pro11del
NM_058195.3:c.194-3611_194-3588del , LRG_11t2:c.194-3611_194-3588del	NP_478102.2:n.194-3611_194-3588del
XM_011517675.1:c.9_32del	XP_011515977.1:p.Ala4_Pro11del
XM_011517676.1:c.9_32del	XP_011515978.1:p.Ala4_Pro11del
XM_011517679.1:c.-3-3611_-3-3588del	XP_011515981.1:n.-3-3611_-3-3588del
XR_929159.1:n.410_433del
XR_929161.1:n.341-3611_341-3588del
XR_929162.1:n.341-3611_341-3588del
XR_929163.1:n.290-3611_290-3588del
NM_001363763.1:c.-3-3611_-3-3588del	NP_001350692.1:n.-3-3611_-3-3588del
XM_011517675.2:c.9_32del	XP_011515977.1:p.Ala4_Pro11del
XM_011517676.2:c.9_32del	XP_011515978.1:p.Ala4_Pro11del
XR_929159.2:n.339_362del
NM_001363763.2:c.-3-3611_-3-3588del	NP_001350692.1:n.-3-3611_-3-3588del
NM_000077.5:c.9_32del MANE Select	NP_000068.1:p.Ala4_Pro11del
NM_001195132.2:c.9_32del	NP_001182061.1:p.Ala4_Pro11del
NM_058195.4:c.194-3611_194-3588del MANE Plus Clinical	NP_478102.2:n.194-3611_194-3588del
NM_058197.5:c.9_32del	NP_478104.2:p.Ala4_Pro11del