Canonical Allele Identifier: CA891842865

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 573002
• ClinVar RCV Id: RCV000694543
• dbSNP Id: rs1563888944
• MyVariant Identifiers: chr9:g.21970998_21970999dup (hg19) ; chr9:g.21970999_21971000dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971000_21971001dup , CM000671.2:g.21971000_21971001dup	GRCh38
NC_000009.11:g.21970999_21971000dup , CM000671.1:g.21970999_21971000dup	GRCh37
NC_000009.10:g.21960999_21961000dup	NCBI36
NG_007485.1:g.28492_28493dup , LRG_11:g.28492_28493dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.359_360dup MANE Select	ENSP00000307101.5:p.Leu121SerfsTer26
ENST00000404796.3:c.348-58433_348-58432dup	ENSP00000385916.2:n.348-58433_348-58432du...
ENST00000579755.2:c.*3_*4dup MANE Plus Clinical	ENSP00000462950.1:n.*3_*4dup
ENST00000304494.9:c.359_360dup	ENSP00000307101.5:p.Leu121SerfsTer26
ENST00000361570.4:c.401_402dup	ENSP00000355153.4:p.Leu135SerfsTer26
ENST00000380150.2:n.333_334dup
ENST00000380151.3:c.633_634dup	ENSP00000369496.3:n.633_634dup
ENST00000404796.2:c.348-58433_348-58432dup	ENSP00000385916.2:n.348-58433_348-58432du...
ENST00000479692.2:c.206_207dup	ENSP00000466887.1:p.Leu70SerfsTer26
ENST00000494262.5:c.206_207dup	ENSP00000464952.1:p.Leu70SerfsTer26
ENST00000497750.1:c.206_207dup	ENSP00000468510.1:p.Leu70SerfsTer26
ENST00000498124.1:c.359_360dup	ENSP00000418915.1:p.Leu121SerfsTer26
ENST00000498628.6:c.206_207dup	ENSP00000467857.1:p.Leu70SerfsTer26
ENST00000530628.2:c.*3_*4dup	ENSP00000432664.2:n.*3_*4dup
ENST00000578845.2:c.206_207dup	ENSP00000467390.1:p.Leu70SerfsTer26
ENST00000579122.1:c.359_360dup	ENSP00000464202.1:p.Leu121SerfsTer13
ENST00000579755.1:c.*3_*4dup	ENSP00000462950.1:n.*3_*4dup
NM_000077.4:c.359_360dup , LRG_11t1:c.359_360dup	NP_000068.1:p.Leu121SerfsTer26
NM_001195132.1:c.359_360dup	NP_001182061.1:p.Leu121SerfsTer26
NM_058195.3:c.*3_*4dup , LRG_11t2:c.*3_*4dup	NP_478102.2:n.*3_*4dup
NM_058197.4:c.633_634dup	NP_478104.2:n.633_634dup
XM_005251343.1:c.206_207dup	XP_005251400.1:p.Leu70SerfsTer26
XM_011517675.1:c.359_360dup	XP_011515977.1:p.Leu121SerfsTer26
XM_011517676.1:c.359_360dup	XP_011515978.1:p.Leu121SerfsTer26
XM_011517679.1:c.206_207dup	XP_011515981.1:p.Leu70SerfsTer26
XR_929159.1:n.760_761dup
XR_929161.1:n.549_550dup
XR_929162.1:n.549_550dup
XR_929163.1:n.498_499dup
XR_929164.1:n.281_282dup
NM_001363763.1:c.206_207dup	NP_001350692.1:p.Leu70SerfsTer26
XM_011517675.2:c.359_360dup	XP_011515977.1:p.Leu121SerfsTer26
XM_011517676.2:c.359_360dup	XP_011515978.1:p.Leu121SerfsTer26
XR_929159.2:n.689_690dup
NM_001363763.2:c.206_207dup	NP_001350692.1:p.Leu70SerfsTer26
NM_000077.5:c.359_360dup MANE Select	NP_000068.1:p.Leu121SerfsTer26
NM_001195132.2:c.359_360dup	NP_001182061.1:p.Leu121SerfsTer26
NM_058195.4:c.*3_*4dup MANE Plus Clinical	NP_478102.2:n.*3_*4dup
NM_058197.5:c.*282_*283dup	NP_478104.2:n.*282_*283dup