Canonical Allele Identifier: CA915947489

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 802474
• ClinVar RCV Id: RCV000988168
• dbSNP Id: rs1587341124

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21975060_21975061insCGC , CM000671.2:g.21975060_21975061insCGC	GRCh38
NC_000009.11:g.21975059_21975060insCGC , CM000671.1:g.21975059_21975060insCGC	GRCh37
NC_000009.10:g.21965059_21965060insCGC	NCBI36
NG_007485.1:g.24431_24432insGCG , LRG_11:g.24431_24432insGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-54373_348-54372insCGC	ENSP00000385916.2:n.348-54373_348-54372insCGC
ENST00000579755.2:c.194-3853_194-3852insGCG MANE Plus Clinical	ENSP00000462950.1:n.194-3853_194-3852insGCG
ENST00000304494.9:c.-234_-233insGCG	ENSP00000307101.5:n.-234_-233insGCG
ENST00000361570.4:c.194-3853_194-3852insGCG	ENSP00000355153.4:n.194-3853_194-3852insGCG
ENST00000404796.2:c.348-54373_348-54372insCGC	ENSP00000385916.2:n.348-54373_348-54372insCGC
ENST00000494262.5:c.-3-3853_-3-3852insGCG	ENSP00000464952.1:n.-3-3853_-3-3852insGCG
ENST00000498628.6:c.-3-3853_-3-3852insGCG	ENSP00000467857.1:n.-3-3853_-3-3852insGCG
ENST00000530628.2:c.194-3853_194-3852insGCG	ENSP00000432664.2:n.194-3853_194-3852insGCG
ENST00000579755.1:c.194-3853_194-3852insGCG	ENSP00000462950.1:n.194-3853_194-3852insGCG
NM_000077.4:c.-234_-233insGCG , LRG_11t1:c.-234_-233insGCG	NP_000068.1:n.-234_-233insGCG
NM_001195132.1:c.-234_-233insGCG	NP_001182061.1:n.-234_-233insGCG
NM_058195.3:c.194-3853_194-3852insGCG , LRG_11t2:c.194-3853_194-3852insGCG	NP_478102.2:n.194-3853_194-3852insGCG
XM_011517675.1:c.-234_-233insGCG	XP_011515977.1:n.-234_-233insGCG
XM_011517676.1:c.-234_-233insGCG	XP_011515978.1:n.-234_-233insGCG
XM_011517679.1:c.-3-3853_-3-3852insGCG	XP_011515981.1:n.-3-3853_-3-3852insGCG
XR_929159.1:n.168_169insGCG
XR_929161.1:n.341-3853_341-3852insGCG
XR_929162.1:n.341-3853_341-3852insGCG
XR_929163.1:n.290-3853_290-3852insGCG
NM_001363763.1:c.-3-3853_-3-3852insGCG	NP_001350692.1:n.-3-3853_-3-3852insGCG
XM_011517675.2:c.-234_-233insGCG	XP_011515977.1:n.-234_-233insGCG
XM_011517676.2:c.-234_-233insGCG	XP_011515978.1:n.-234_-233insGCG
XR_929159.2:n.97_98insGCG
NM_001363763.2:c.-3-3853_-3-3852insGCG	NP_001350692.1:n.-3-3853_-3-3852insGCG
NM_058195.4:c.194-3853_194-3852insGCG MANE Plus Clinical	NP_478102.2:n.194-3853_194-3852insGCG