Canonical Allele Identifier: CA862183528

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1181174346
• gnomAD v3: 9-21988958-CCTCA-C
• gnomAD v4: 9-21988958-CCTCA-C
• MyVariant Identifiers: chr9:g.21988958_21988961del (hg19) ; chr9:g.21988959_21988962del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988961_21988964del , CM000671.2:g.21988961_21988964del	GRCh38
NC_000009.11:g.21988960_21988963del , CM000671.1:g.21988960_21988963del	GRCh37
NC_000009.10:g.21978960_21978963del	NCBI36
NG_007485.1:g.10530_10533del , LRG_11:g.10530_10533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40472_348-40469del	ENSP00000385916.2:n.348-40472_348-40469del
ENST00000579755.2:c.193+5177_193+5180del MANE Plus Clinical	ENSP00000462950.1:n.193+5177_193+5180del
ENST00000361570.4:c.193+5177_193+5180del	ENSP00000355153.4:n.193+5177_193+5180del
ENST00000404796.2:c.348-40472_348-40469del	ENSP00000385916.2:n.348-40472_348-40469del
ENST00000494262.5:c.-4+4920_-4+4923del	ENSP00000464952.1:n.-4+4920_-4+4923del
ENST00000498628.6:c.-4+5859_-4+5862del	ENSP00000467857.1:n.-4+5859_-4+5862del
ENST00000530628.2:c.193+5177_193+5180del	ENSP00000432664.2:n.193+5177_193+5180del
ENST00000579755.1:c.193+5177_193+5180del	ENSP00000462950.1:n.193+5177_193+5180del
NM_058195.3:c.193+5177_193+5180del , LRG_11t2:c.193+5177_193+5180del	NP_478102.2:n.193+5177_193+5180del
XM_011517678.1:c.*968_*971del	XP_011515980.1:n.*968_*971del
XM_011517679.1:c.-4+5859_-4+5862del	XP_011515981.1:n.-4+5859_-4+5862del
XR_929161.1:n.340+5177_340+5180del
XR_929162.1:n.340+5177_340+5180del
XR_929163.1:n.289+5177_289+5180del
NM_001363763.1:c.-4+5859_-4+5862del	NP_001350692.1:n.-4+5859_-4+5862del
NM_001363763.2:c.-4+5859_-4+5862del	NP_001350692.1:n.-4+5859_-4+5862del
NM_058195.4:c.193+5177_193+5180del MANE Plus Clinical	NP_478102.2:n.193+5177_193+5180del