Canonical Allele Identifier: CA2580616164

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1549713
• ClinVar RCV Id: RCV002189464
• dbSNP Id: rs2131111719

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974668_21974671dup , CM000671.2:g.21974668_21974671dup	GRCh38
NC_000009.11:g.21974667_21974670dup , CM000671.1:g.21974667_21974670dup	GRCh37
NC_000009.10:g.21964667_21964670dup	NCBI36
NG_007485.1:g.24821_24824dup , LRG_11:g.24821_24824dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.150+7_150+10dup MANE Select	ENSP00000307101.5:n.150+7_150+10dup
ENST00000404796.3:c.348-54765_348-54762dup	ENSP00000385916.2:n.348-54765_348-54762dup
ENST00000579755.2:c.194-3463_194-3460dup MANE Plus Clinical	ENSP00000462950.1:n.194-3463_194-3460dup
ENST00000304494.9:c.150+7_150+10dup	ENSP00000307101.5:n.150+7_150+10dup
ENST00000361570.4:c.194-3463_194-3460dup	ENSP00000355153.4:n.194-3463_194-3460dup
ENST00000380151.3:c.157_160dup	ENSP00000369496.3:p.Gly54GlufsTer26
ENST00000404796.2:c.348-54765_348-54762dup	ENSP00000385916.2:n.348-54765_348-54762dup
ENST00000494262.5:c.-3-3463_-3-3460dup	ENSP00000464952.1:n.-3-3463_-3-3460dup
ENST00000498124.1:c.150+7_150+10dup	ENSP00000418915.1:n.150+7_150+10dup
ENST00000498628.6:c.-3-3463_-3-3460dup	ENSP00000467857.1:n.-3-3463_-3-3460dup
ENST00000530628.2:c.194-3463_194-3460dup	ENSP00000432664.2:n.194-3463_194-3460dup
ENST00000579122.1:c.150+7_150+10dup	ENSP00000464202.1:n.150+7_150+10dup
ENST00000579755.1:c.194-3463_194-3460dup	ENSP00000462950.1:n.194-3463_194-3460dup
NM_000077.4:c.150+7_150+10dup , LRG_11t1:c.150+7_150+10dup	NP_000068.1:n.150+7_150+10dup
NM_001195132.1:c.150+7_150+10dup	NP_001182061.1:n.150+7_150+10dup
NM_058195.3:c.194-3463_194-3460dup , LRG_11t2:c.194-3463_194-3460dup	NP_478102.2:n.194-3463_194-3460dup
NM_058197.4:c.157_160dup	NP_478104.2:p.Gly54GlufsTer26
XM_011517675.1:c.150+7_150+10dup	XP_011515977.1:n.150+7_150+10dup
XM_011517676.1:c.150+7_150+10dup	XP_011515978.1:n.150+7_150+10dup
XM_011517679.1:c.-3-3463_-3-3460dup	XP_011515981.1:n.-3-3463_-3-3460dup
XR_929159.1:n.551+7_551+10dup
XR_929161.1:n.341-3463_341-3460dup
XR_929162.1:n.341-3463_341-3460dup
XR_929163.1:n.290-3463_290-3460dup
NM_001363763.1:c.-3-3463_-3-3460dup	NP_001350692.1:n.-3-3463_-3-3460dup
XM_011517675.2:c.150+7_150+10dup	XP_011515977.1:n.150+7_150+10dup
XM_011517676.2:c.150+7_150+10dup	XP_011515978.1:n.150+7_150+10dup
XR_929159.2:n.480+7_480+10dup
NM_001363763.2:c.-3-3463_-3-3460dup	NP_001350692.1:n.-3-3463_-3-3460dup
NM_000077.5:c.150+7_150+10dup MANE Select	NP_000068.1:n.150+7_150+10dup
NM_001195132.2:c.150+7_150+10dup	NP_001182061.1:n.150+7_150+10dup
NM_058195.4:c.194-3463_194-3460dup MANE Plus Clinical	NP_478102.2:n.194-3463_194-3460dup
NM_058197.5:c.157_160dup	NP_478104.2:p.Gly54GlufsTer26