Canonical Allele Identifier: CA915947490

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 802475
• ClinVar RCV Id: RCV000988169
• dbSNP Id: rs1587341128

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21975061_21975062insCAC , CM000671.2:g.21975061_21975062insCAC	GRCh38
NC_000009.11:g.21975060_21975061insCAC , CM000671.1:g.21975060_21975061insCAC	GRCh37
NC_000009.10:g.21965060_21965061insCAC	NCBI36
NG_007485.1:g.24430_24431insGTG , LRG_11:g.24430_24431insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-54372_348-54371insCAC	ENSP00000385916.2:n.348-54372_348-54371insCAC
ENST00000579755.2:c.194-3854_194-3853insGTG MANE Plus Clinical	ENSP00000462950.1:n.194-3854_194-3853insGTG
ENST00000304494.9:c.-235_-234insGTG	ENSP00000307101.5:n.-235_-234insGTG
ENST00000361570.4:c.194-3854_194-3853insGTG	ENSP00000355153.4:n.194-3854_194-3853insGTG
ENST00000404796.2:c.348-54372_348-54371insCAC	ENSP00000385916.2:n.348-54372_348-54371insCAC
ENST00000494262.5:c.-3-3854_-3-3853insGTG	ENSP00000464952.1:n.-3-3854_-3-3853insGTG
ENST00000498628.6:c.-3-3854_-3-3853insGTG	ENSP00000467857.1:n.-3-3854_-3-3853insGTG
ENST00000530628.2:c.194-3854_194-3853insGTG	ENSP00000432664.2:n.194-3854_194-3853insGTG
ENST00000579755.1:c.194-3854_194-3853insGTG	ENSP00000462950.1:n.194-3854_194-3853insGTG
NM_000077.4:c.-235_-234insGTG , LRG_11t1:c.-235_-234insGTG	NP_000068.1:n.-235_-234insGTG
NM_001195132.1:c.-235_-234insGTG	NP_001182061.1:n.-235_-234insGTG
NM_058195.3:c.194-3854_194-3853insGTG , LRG_11t2:c.194-3854_194-3853insGTG	NP_478102.2:n.194-3854_194-3853insGTG
XM_011517675.1:c.-235_-234insGTG	XP_011515977.1:n.-235_-234insGTG
XM_011517676.1:c.-235_-234insGTG	XP_011515978.1:n.-235_-234insGTG
XM_011517679.1:c.-3-3854_-3-3853insGTG	XP_011515981.1:n.-3-3854_-3-3853insGTG
XR_929159.1:n.167_168insGTG
XR_929161.1:n.341-3854_341-3853insGTG
XR_929162.1:n.341-3854_341-3853insGTG
XR_929163.1:n.290-3854_290-3853insGTG
NM_001363763.1:c.-3-3854_-3-3853insGTG	NP_001350692.1:n.-3-3854_-3-3853insGTG
XM_011517675.2:c.-235_-234insGTG	XP_011515977.1:n.-235_-234insGTG
XM_011517676.2:c.-235_-234insGTG	XP_011515978.1:n.-235_-234insGTG
XR_929159.2:n.96_97insGTG
NM_001363763.2:c.-3-3854_-3-3853insGTG	NP_001350692.1:n.-3-3854_-3-3853insGTG
NM_058195.4:c.194-3854_194-3853insGTG MANE Plus Clinical	NP_478102.2:n.194-3854_194-3853insGTG