Canonical Allele Identifier: CA5012285

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 371948
• ClinVar RCV Id: RCV000410693
• dbSNP Id: rs753508262
• ExAC: 9:21974600 GATTCCA / G
• gnomAD v2: 9-21974600-GATTCCA-G
• gnomAD v3: 9-21974601-GATTCCA-G
• gnomAD v4: 9-21974601-GATTCCA-G
• MyVariant Identifiers: chr9:g.21974601_21974606del (hg19) ; chr9:g.21974602_21974607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974607_21974612del , CM000671.2:g.21974607_21974612del	GRCh38
NC_000009.11:g.21974606_21974611del , CM000671.1:g.21974606_21974611del	GRCh37
NC_000009.10:g.21964606_21964611del	NCBI36
NG_007485.1:g.24885_24890del , LRG_11:g.24885_24890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.150+71_150+76del MANE Select	ENSP00000307101.5:n.150+71_150+76del
ENST00000404796.3:c.348-54826_348-54821del	ENSP00000385916.2:n.348-54826_348-54821del
ENST00000579755.2:c.194-3399_194-3394del MANE Plus Clinical	ENSP00000462950.1:n.194-3399_194-3394del
ENST00000304494.9:c.150+71_150+76del	ENSP00000307101.5:n.150+71_150+76del
ENST00000361570.4:c.194-3399_194-3394del	ENSP00000355153.4:n.194-3399_194-3394del
ENST00000380151.3:c.221_226del	ENSP00000369496.3:p.Leu74_Glu75del
ENST00000404796.2:c.348-54826_348-54821del	ENSP00000385916.2:n.348-54826_348-54821del
ENST00000494262.5:c.-3-3399_-3-3394del	ENSP00000464952.1:n.-3-3399_-3-3394del
ENST00000498124.1:c.150+71_150+76del	ENSP00000418915.1:n.150+71_150+76del
ENST00000498628.6:c.-3-3399_-3-3394del	ENSP00000467857.1:n.-3-3399_-3-3394del
ENST00000530628.2:c.194-3399_194-3394del	ENSP00000432664.2:n.194-3399_194-3394del
ENST00000579122.1:c.150+71_150+76del	ENSP00000464202.1:n.150+71_150+76del
ENST00000579755.1:c.194-3399_194-3394del	ENSP00000462950.1:n.194-3399_194-3394del
NM_000077.4:c.150+71_150+76del , LRG_11t1:c.150+71_150+76del	NP_000068.1:n.150+71_150+76del
NM_001195132.1:c.150+71_150+76del	NP_001182061.1:n.150+71_150+76del
NM_058195.3:c.194-3399_194-3394del , LRG_11t2:c.194-3399_194-3394del	NP_478102.2:n.194-3399_194-3394del
NM_058197.4:c.221_226del	NP_478104.2:p.Leu74_Glu75del
XM_011517675.1:c.150+71_150+76del	XP_011515977.1:n.150+71_150+76del
XM_011517676.1:c.150+71_150+76del	XP_011515978.1:n.150+71_150+76del
XM_011517679.1:c.-3-3399_-3-3394del	XP_011515981.1:n.-3-3399_-3-3394del
XR_929159.1:n.551+71_551+76del
XR_929161.1:n.341-3399_341-3394del
XR_929162.1:n.341-3399_341-3394del
XR_929163.1:n.290-3399_290-3394del
NM_001363763.1:c.-3-3399_-3-3394del	NP_001350692.1:n.-3-3399_-3-3394del
XM_011517675.2:c.150+71_150+76del	XP_011515977.1:n.150+71_150+76del
XM_011517676.2:c.150+71_150+76del	XP_011515978.1:n.150+71_150+76del
XR_929159.2:n.480+71_480+76del
NM_001363763.2:c.-3-3399_-3-3394del	NP_001350692.1:n.-3-3399_-3-3394del
NM_000077.5:c.150+71_150+76del MANE Select	NP_000068.1:n.150+71_150+76del
NM_001195132.2:c.150+71_150+76del	NP_001182061.1:n.150+71_150+76del
NM_058195.4:c.194-3399_194-3394del MANE Plus Clinical	NP_478102.2:n.194-3399_194-3394del
NM_058197.5:c.221_226del	NP_478104.2:p.Leu74_Glu75del