Canonical Allele Identifier: CA202328

Gene: TP63

Linked Data

• ClinVar Variation Id: 196365
• ClinVar RCV Id: RCV000177177 ; RCV000514456 ; RCV001080338 ; RCV002503681
• dbSNP Id: rs794727498
• ExAC: 3:189456420 CTA / C
• gnomAD v2: 3-189456420-CTA-C
• gnomAD v3: 3-189738631-CTA-C
• gnomAD v4: 3-189738631-CTA-C
• COSMIC: COSM5020459 ; COSM5020460
• MyVariant Identifiers: chr3:g.189456422_189456423del (hg19) ; chr3:g.189456421_189456422del (hg19) ; chr3:g.189738633_189738634del (hg38) ; chr3:g.189738632_189738633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189738633_189738634del , CM000665.2:g.189738633_189738634del	GRCh38
NC_000003.11:g.189456422_189456423del , CM000665.1:g.189456422_189456423del	GRCh37
NC_000003.10:g.190939116_190939117del	NCBI36
NG_007550.1:g.112207_112208del
NG_007550.2:g.112207_112208del
NG_007550.3:g.146888_146889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.192-9_192-8del MANE Select	ENSP00000264731.3:n.192-9_192-8del
ENST00000264731.7:c.192-9_192-8del	ENSP00000264731.3:n.192-9_192-8del
ENST00000320472.9:c.192-9_192-8del	ENSP00000317510.5:n.192-9_192-8del
ENST00000392460.7:c.192-9_192-8del	ENSP00000376253.3:n.192-9_192-8del
ENST00000418709.6:c.192-9_192-8del	ENSP00000407144.2:n.192-9_192-8del
ENST00000440651.6:c.192-9_192-8del	ENSP00000394337.2:n.192-9_192-8del
ENST00000486398.1:n.292-9_292-8del
NM_001114978.1:c.192-9_192-8del	NP_001108450.1:n.192-9_192-8del
NM_001114979.1:c.192-9_192-8del	NP_001108451.1:n.192-9_192-8del
NM_003722.4:c.192-9_192-8del	NP_003713.3:n.192-9_192-8del
XM_005247843.2:c.192-9_192-8del	XP_005247900.1:n.192-9_192-8del
XM_005247844.3:c.141-9_141-8del	XP_005247901.1:n.141-9_141-8del
XM_005247846.2:c.192-9_192-8del	XP_005247903.1:n.192-9_192-8del
XM_011513251.1:c.189-9_189-8del	XP_011511553.1:n.189-9_189-8del
XM_011513252.1:c.186-9_186-8del	XP_011511554.1:n.186-9_186-8del
XM_011513253.1:c.153-9_153-8del	XP_011511555.1:n.153-9_153-8del
NM_001329144.1:c.192-9_192-8del	NP_001316073.1:n.192-9_192-8del
NM_001329148.1:c.192-9_192-8del	NP_001316077.1:n.192-9_192-8del
NM_001329964.1:c.186-9_186-8del	NP_001316893.1:n.186-9_186-8del
NM_003722.5:c.192-9_192-8del MANE Select	NP_003713.3:n.192-9_192-8del
NM_001114978.2:c.192-9_192-8del	NP_001108450.1:n.192-9_192-8del
NM_001114979.2:c.192-9_192-8del	NP_001108451.1:n.192-9_192-8del
NM_001329144.2:c.192-9_192-8del	NP_001316073.1:n.192-9_192-8del
NM_001329148.2:c.192-9_192-8del	NP_001316077.1:n.192-9_192-8del
NM_001329964.2:c.186-9_186-8del	NP_001316893.1:n.186-9_186-8del