Canonical Allele Identifier: CA10603096

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 279749
• ClinVar RCV Id: RCV000348730 ; RCV001239756
• dbSNP Id: rs886041162
• MyVariant Identifiers: chr9:g.21971050_21971051del (hg19) ; chr9:g.21971051_21971052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971054_21971055del , CM000671.2:g.21971054_21971055del	GRCh38
NC_000009.11:g.21971053_21971054del , CM000671.1:g.21971053_21971054del	GRCh37
NC_000009.10:g.21961053_21961054del	NCBI36
NG_007485.1:g.28440_28441del , LRG_11:g.28440_28441del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.307_308del MANE Select	ENSP00000307101.5:p.Arg103AlafsTer16
ENST00000404796.3:c.348-58379_348-58378del	ENSP00000385916.2:n.348-58379_348-58378del
ENST00000579755.2:c.350_351del MANE Plus Clinical	ENSP00000462950.1:p.Ala117GlyfsTer?
ENST00000304494.9:c.307_308del	ENSP00000307101.5:p.Arg103AlafsTer16
ENST00000361570.4:c.349_350del	ENSP00000355153.4:p.Arg117AlafsTer16
ENST00000380150.2:n.281_282del
ENST00000380151.3:c.581_582del	ENSP00000369496.3:n.581_582del
ENST00000404796.2:c.348-58379_348-58378del	ENSP00000385916.2:n.348-58379_348-58378del
ENST00000479692.2:c.154_155del	ENSP00000466887.1:p.Arg52AlafsTer16
ENST00000494262.5:c.154_155del	ENSP00000464952.1:p.Arg52AlafsTer16
ENST00000497750.1:c.154_155del	ENSP00000468510.1:p.Arg52AlafsTer16
ENST00000498124.1:c.307_308del	ENSP00000418915.1:p.Arg103AlafsTer16
ENST00000498628.6:c.154_155del	ENSP00000467857.1:p.Arg52AlafsTer16
ENST00000530628.2:c.350_351del	ENSP00000432664.2:p.Ala117GlyfsTer30
ENST00000578845.2:c.154_155del	ENSP00000467390.1:p.Arg52AlafsTer16
ENST00000579122.1:c.307_308del	ENSP00000464202.1:p.Arg103AlafsTer16
ENST00000579755.1:c.350_351del	ENSP00000462950.1:p.Ala117GlyfsTer?
NM_000077.4:c.307_308del , LRG_11t1:c.307_308del	NP_000068.1:p.Arg103AlafsTer16
NM_001195132.1:c.307_308del	NP_001182061.1:p.Arg103AlafsTer16
NM_058195.3:c.350_351del , LRG_11t2:c.350_351del	NP_478102.2:p.Ala117GlyfsTer?
NM_058197.4:c.581_582del	NP_478104.2:n.581_582del
XM_005251343.1:c.154_155del	XP_005251400.1:p.Arg52AlafsTer16
XM_011517675.1:c.307_308del	XP_011515977.1:p.Arg103AlafsTer16
XM_011517676.1:c.307_308del	XP_011515978.1:p.Arg103AlafsTer16
XM_011517679.1:c.154_155del	XP_011515981.1:p.Arg52AlafsTer16
XR_929159.1:n.708_709del
XR_929161.1:n.497_498del
XR_929162.1:n.497_498del
XR_929163.1:n.446_447del
XR_929164.1:n.229_230del
NM_001363763.1:c.154_155del	NP_001350692.1:p.Arg52AlafsTer16
XM_011517675.2:c.307_308del	XP_011515977.1:p.Arg103AlafsTer16
XM_011517676.2:c.307_308del	XP_011515978.1:p.Arg103AlafsTer16
XR_929159.2:n.637_638del
NM_001363763.2:c.154_155del	NP_001350692.1:p.Arg52AlafsTer16
NM_000077.5:c.307_308del MANE Select	NP_000068.1:p.Arg103AlafsTer16
NM_001195132.2:c.307_308del	NP_001182061.1:p.Arg103AlafsTer16
NM_058195.4:c.350_351del MANE Plus Clinical	NP_478102.2:p.Ala117GlyfsTer?
NM_058197.5:c.*230_*231del	NP_478104.2:n.*230_*231del