Canonical Allele Identifier: CA1122184002

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1819511972
• gnomAD v3: 9-21968337-GAAAT-G
• gnomAD v4: 9-21968337-GAAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968339_21968342del , CM000671.2:g.21968339_21968342del	GRCh38
NC_000009.11:g.21968338_21968341del , CM000671.1:g.21968338_21968341del	GRCh37
NC_000009.10:g.21958338_21958341del	NCBI36
NG_007485.1:g.31151_31154del , LRG_11:g.31151_31154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.458-99_458-96del MANE Select	ENSP00000307101.5:n.458-99_458-96del
ENST00000404796.3:c.348-61094_348-61091del	ENSP00000385916.2:n.348-61094_348-61091del
ENST00000579755.2:c.*102-99_*102-96del MANE Plus Clinical	ENSP00000462950.1:n.*102-99_*102-96del
ENST00000304494.9:c.458-99_458-96del	ENSP00000307101.5:n.458-99_458-96del
ENST00000361570.4:c.500-99_500-96del	ENSP00000355153.4:n.500-99_500-96del
ENST00000380151.3:c.732-99_732-96del	ENSP00000369496.3:n.732-99_732-96del
ENST00000404796.2:c.348-61094_348-61091del	ENSP00000385916.2:n.348-61094_348-61091del
ENST00000494262.5:c.305-99_305-96del	ENSP00000464952.1:n.305-99_305-96del
ENST00000498124.1:c.*151-99_*151-96del	ENSP00000418915.1:n.*151-99_*151-96del
ENST00000498628.6:c.305-99_305-96del	ENSP00000467857.1:n.305-99_305-96del
ENST00000530628.2:c.*28-99_*28-96del	ENSP00000432664.2:n.*28-99_*28-96del
ENST00000578845.2:c.305-99_305-96del	ENSP00000467390.1:n.305-99_305-96del
ENST00000579122.1:c.384-99_384-96del	ENSP00000464202.1:n.384-99_384-96del
ENST00000579755.1:c.*102-99_*102-96del	ENSP00000462950.1:n.*102-99_*102-96del
NM_000077.4:c.458-99_458-96del , LRG_11t1:c.458-99_458-96del	NP_000068.1:n.458-99_458-96del
NM_001195132.1:c.*151-99_*151-96del	NP_001182061.1:n.*151-99_*151-96del
NM_058195.3:c.*102-99_*102-96del , LRG_11t2:c.*102-99_*102-96del	NP_478102.2:n.*102-99_*102-96del
NM_058197.4:c.732-99_732-96del	NP_478104.2:n.732-99_732-96del
XM_005251343.1:c.305-99_305-96del	XP_005251400.1:n.305-99_305-96del
XM_011517679.1:c.305-99_305-96del	XP_011515981.1:n.305-99_305-96del
NM_001363763.1:c.305-99_305-96del	NP_001350692.1:n.305-99_305-96del
XM_011517676.2:c.*1391_*1394del	XP_011515978.1:n.*1391_*1394del
XR_929159.2:n.2507_2510del
NM_001363763.2:c.305-99_305-96del	NP_001350692.1:n.305-99_305-96del
NM_000077.5:c.458-99_458-96del MANE Select	NP_000068.1:n.458-99_458-96del
NM_001195132.2:c.*151-99_*151-96del	NP_001182061.1:n.*151-99_*151-96del
NM_058195.4:c.*102-99_*102-96del MANE Plus Clinical	NP_478102.2:n.*102-99_*102-96del
NM_058197.5:c.*381-99_*381-96del	NP_478104.2:n.*381-99_*381-96del