Canonical Allele Identifier: CA2580070511

Gene: TP63

Linked Data

• ClinVar Variation Id: 6538
• ClinVar RCV Id: RCV000006912
• dbSNP Id: rs2108864814

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189890829_189890830del , CM000665.2:g.189890829_189890830del	GRCh38
NC_000003.11:g.189608618_189608619del , CM000665.1:g.189608618_189608619del	GRCh37
NC_000003.10:g.191091312_191091313del	NCBI36
NG_007550.1:g.264403_264404del
NG_007550.2:g.264403_264404del
NG_007550.3:g.299084_299085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264731.8:c.1693_1694del MANE Select	ENSP00000264731.3:p.Phe565HisfsTer12
ENST00000354600.10:c.1411_1412del MANE Plus Clinical	ENSP00000346614.5:p.Phe471HisfsTer12
ENST00000264731.7:c.1693_1694del	ENSP00000264731.3:p.Phe565HisfsTer12
ENST00000320472.9:c.1508-3377_1508-3376del	ENSP00000317510.5:n.1508-3377_1508-3376de...
ENST00000354600.9:c.1411_1412del	ENSP00000346614.5:p.Phe471HisfsTer12
ENST00000392460.7:c.1652+1345_1652+1346del	ENSP00000376253.3:n.1652+1345_1652+1346de...
ENST00000392461.7:c.1226-3377_1226-3376del	ENSP00000376254.3:n.1226-3377_1226-3376de...
ENST00000392463.6:c.1370+1345_1370+1346del	ENSP00000376256.2:n.1370+1345_1370+1346de...
ENST00000440651.6:c.1681_1682del	ENSP00000394337.2:p.Phe561HisfsTer12
ENST00000449992.5:c.1156_1157del	ENSP00000387839.1:p.Phe386HisfsTer12
ENST00000456148.1:c.1399_1400del	ENSP00000389485.1:p.Phe467HisfsTer12
NM_001114978.1:c.1652+1345_1652+1346del	NP_001108450.1:n.1652+1345_1652+1346del
NM_001114980.1:c.1411_1412del	NP_001108452.1:p.Phe471HisfsTer12
NM_001114981.1:c.1370+1345_1370+1346del	NP_001108453.1:n.1370+1345_1370+1346del
NM_003722.4:c.1693_1694del	NP_003713.3:p.Phe565HisfsTer12
XM_005247843.2:c.1681_1682del	XP_005247900.1:p.Phe561HisfsTer12
XM_005247844.3:c.1642_1643del	XP_005247901.1:p.Phe548HisfsTer12
XM_011513251.1:c.1690_1691del	XP_011511553.1:p.Phe564HisfsTer12
XM_011513252.1:c.1687_1688del	XP_011511554.1:p.Phe563HisfsTer12
XM_011513253.1:c.1654_1655del	XP_011511555.1:p.Phe552HisfsTer12
NM_001329144.1:c.1508-3377_1508-3376del	NP_001316073.1:n.1508-3377_1508-3376del
NM_001329145.1:c.1226-3377_1226-3376del	NP_001316074.1:n.1226-3377_1226-3376del
NM_001329146.1:c.1156_1157del	NP_001316075.1:p.Phe386HisfsTer12
NM_001329148.1:c.1681_1682del	NP_001316077.1:p.Phe561HisfsTer12
NM_001329149.1:c.1214-3377_1214-3376del	NP_001316078.1:n.1214-3377_1214-3376del
NM_001329150.1:c.959-3377_959-3376del	NP_001316079.1:n.959-3377_959-3376del
NM_001329964.1:c.1687_1688del	NP_001316893.1:p.Phe563HisfsTer12
NM_003722.5:c.1693_1694del MANE Select	NP_003713.3:p.Phe565HisfsTer12
NM_001114978.2:c.1652+1345_1652+1346del	NP_001108450.1:n.1652+1345_1652+1346del
NM_001114980.2:c.1411_1412del MANE Plus Clinical	NP_001108452.1:p.Phe471HisfsTer12
NM_001114981.2:c.1370+1345_1370+1346del	NP_001108453.1:n.1370+1345_1370+1346del
NM_001329144.2:c.1508-3377_1508-3376del	NP_001316073.1:n.1508-3377_1508-3376del
NM_001329145.2:c.1226-3377_1226-3376del	NP_001316074.1:n.1226-3377_1226-3376del
NM_001329146.2:c.1156_1157del	NP_001316075.1:p.Phe386HisfsTer12
NM_001329148.2:c.1681_1682del	NP_001316077.1:p.Phe561HisfsTer12
NM_001329149.2:c.1214-3377_1214-3376del	NP_001316078.1:n.1214-3377_1214-3376del
NM_001329150.2:c.959-3377_959-3376del	NP_001316079.1:n.959-3377_959-3376del
NM_001329964.2:c.1687_1688del	NP_001316893.1:p.Phe563HisfsTer12