Canonical Allele Identifier: CA5012350

Gene: CDKN2A

Linked Data

• dbSNP Id: rs749355808
• ExAC: 9:21974853 T / TG
• gnomAD v2: 9-21974853-T-TG
• gnomAD v4: 9-21974854-T-TG
• MyVariant Identifiers: chr9:g.21974853_21974854insG (hg19) ; chr9:g.21974854_21974855insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974854_21974855insG , CM000671.2:g.21974854_21974855insG	GRCh38
NC_000009.11:g.21974853_21974854insG , CM000671.1:g.21974853_21974854insG	GRCh37
NC_000009.10:g.21964853_21964854insG	NCBI36
NG_007485.1:g.24637_24638insC , LRG_11:g.24637_24638insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.-28_-27insC MANE Select	ENSP00000307101.5:n.-28_-27insC
ENST00000404796.3:c.348-54579_348-54578insG	ENSP00000385916.2:n.348-54579_348-54578insG
ENST00000579755.2:c.194-3647_194-3646insC MANE Plus Clinical	ENSP00000462950.1:n.194-3647_194-3646insC
ENST00000304494.9:c.-28_-27insC	ENSP00000307101.5:n.-28_-27insC
ENST00000361570.4:c.194-3647_194-3646insC	ENSP00000355153.4:n.194-3647_194-3646insC
ENST00000404796.2:c.348-54579_348-54578insG	ENSP00000385916.2:n.348-54579_348-54578insG
ENST00000494262.5:c.-3-3647_-3-3646insC	ENSP00000464952.1:n.-3-3647_-3-3646insC
ENST00000498124.1:c.-28_-27insC	ENSP00000418915.1:n.-28_-27insC
ENST00000498628.6:c.-3-3647_-3-3646insC	ENSP00000467857.1:n.-3-3647_-3-3646insC
ENST00000530628.2:c.194-3647_194-3646insC	ENSP00000432664.2:n.194-3647_194-3646insC
ENST00000579122.1:c.-28_-27insC	ENSP00000464202.1:n.-28_-27insC
ENST00000579755.1:c.194-3647_194-3646insC	ENSP00000462950.1:n.194-3647_194-3646insC
NM_000077.4:c.-28_-27insC , LRG_11t1:c.-28_-27insC	NP_000068.1:n.-28_-27insC
NM_001195132.1:c.-28_-27insC	NP_001182061.1:n.-28_-27insC
NM_058195.3:c.194-3647_194-3646insC , LRG_11t2:c.194-3647_194-3646insC	NP_478102.2:n.194-3647_194-3646insC
XM_011517675.1:c.-28_-27insC	XP_011515977.1:n.-28_-27insC
XM_011517676.1:c.-28_-27insC	XP_011515978.1:n.-28_-27insC
XM_011517679.1:c.-3-3647_-3-3646insC	XP_011515981.1:n.-3-3647_-3-3646insC
XR_929159.1:n.374_375insC
XR_929161.1:n.341-3647_341-3646insC
XR_929162.1:n.341-3647_341-3646insC
XR_929163.1:n.290-3647_290-3646insC
NM_001363763.1:c.-3-3647_-3-3646insC	NP_001350692.1:n.-3-3647_-3-3646insC
XM_011517675.2:c.-28_-27insC	XP_011515977.1:n.-28_-27insC
XM_011517676.2:c.-28_-27insC	XP_011515978.1:n.-28_-27insC
XR_929159.2:n.303_304insC
NM_001363763.2:c.-3-3647_-3-3646insC	NP_001350692.1:n.-3-3647_-3-3646insC
NM_000077.5:c.-28_-27insC MANE Select	NP_000068.1:n.-28_-27insC
NM_001195132.2:c.-28_-27insC	NP_001182061.1:n.-28_-27insC
NM_058195.4:c.194-3647_194-3646insC MANE Plus Clinical	NP_478102.2:n.194-3647_194-3646insC
NM_058197.5:c.-28_-27insC	NP_478104.2:n.-28_-27insC