Canonical Allele Identifier: CA1057639834

Gene: TP63

Linked Data

• dbSNP Id: rs1718031628
• gnomAD v3: 3-189868687-G-GTAC
• gnomAD v4: 3-189868687-G-GTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189868688_189868690dup , CM000665.2:g.189868688_189868690dup	GRCh38
NC_000003.11:g.189586477_189586479dup , CM000665.1:g.189586477_189586479dup	GRCh37
NC_000003.10:g.191069171_191069173dup	NCBI36
NG_007550.1:g.242262_242264dup
NG_007550.2:g.242262_242264dup
NG_007550.3:g.276943_276945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264731.8:c.1101_1103dup MANE Select	ENSP00000264731.3:p.Thr368_Lys369insThr
ENST00000354600.10:c.819_821dup MANE Plus Clinical	ENSP00000346614.5:p.Thr274_Lys275insThr
ENST00000264731.7:c.1101_1103dup	ENSP00000264731.3:p.Thr368_Lys369insThr
ENST00000320472.9:c.1101_1103dup	ENSP00000317510.5:p.Thr368_Lys369insThr
ENST00000354600.9:c.819_821dup	ENSP00000346614.5:p.Thr274_Lys275insThr
ENST00000392460.7:c.1101_1103dup	ENSP00000376253.3:p.Thr368_Lys369insThr
ENST00000392461.7:c.819_821dup	ENSP00000376254.3:p.Thr274_Lys275insThr
ENST00000392463.6:c.819_821dup	ENSP00000376256.2:p.Thr274_Lys275insThr
ENST00000418709.6:c.1101_1103dup	ENSP00000407144.2:p.Thr368_Lys369insThr
ENST00000437221.5:c.819_821dup	ENSP00000392488.1:p.Thr274_Lys275insThr
ENST00000440651.6:c.1101_1103dup	ENSP00000394337.2:p.Thr368_Lys369insThr
ENST00000449992.5:c.564_566dup	ENSP00000387839.1:p.Thr189_Lys190insThr
ENST00000456148.1:c.819_821dup	ENSP00000389485.1:p.Thr274_Lys275insThr
ENST00000460036.1:n.925_927dup
NM_001114978.1:c.1101_1103dup	NP_001108450.1:p.Thr368_Lys369insThr
NM_001114979.1:c.1101_1103dup	NP_001108451.1:p.Thr368_Lys369insThr
NM_001114980.1:c.819_821dup	NP_001108452.1:p.Thr274_Lys275insThr
NM_001114981.1:c.819_821dup	NP_001108453.1:p.Thr274_Lys275insThr
NM_001114982.1:c.819_821dup	NP_001108454.1:p.Thr274_Lys275insThr
NM_003722.4:c.1101_1103dup	NP_003713.3:p.Thr368_Lys369insThr
XM_005247843.2:c.1101_1103dup	XP_005247900.1:p.Thr368_Lys369insThr
XM_005247844.3:c.1050_1052dup	XP_005247901.1:p.Thr351_Lys352insThr
XM_005247846.2:c.1101_1103dup	XP_005247903.1:p.Thr368_Lys369insThr
XM_011513251.1:c.1098_1100dup	XP_011511553.1:p.Thr367_Lys368insThr
XM_011513252.1:c.1095_1097dup	XP_011511554.1:p.Thr366_Lys367insThr
XM_011513253.1:c.1062_1064dup	XP_011511555.1:p.Thr355_Lys356insThr
NM_001329144.1:c.1101_1103dup	NP_001316073.1:p.Thr368_Lys369insThr
NM_001329145.1:c.819_821dup	NP_001316074.1:p.Thr274_Lys275insThr
NM_001329146.1:c.564_566dup	NP_001316075.1:p.Thr189_Lys190insThr
NM_001329148.1:c.1101_1103dup	NP_001316077.1:p.Thr368_Lys369insThr
NM_001329149.1:c.819_821dup	NP_001316078.1:p.Thr274_Lys275insThr
NM_001329150.1:c.564_566dup	NP_001316079.1:p.Thr189_Lys190insThr
NM_001329964.1:c.1095_1097dup	NP_001316893.1:p.Thr366_Lys367insThr
NM_003722.5:c.1101_1103dup MANE Select	NP_003713.3:p.Thr368_Lys369insThr
NM_001114978.2:c.1101_1103dup	NP_001108450.1:p.Thr368_Lys369insThr
NM_001114979.2:c.1101_1103dup	NP_001108451.1:p.Thr368_Lys369insThr
NM_001114980.2:c.819_821dup MANE Plus Clinical	NP_001108452.1:p.Thr274_Lys275insThr
NM_001114981.2:c.819_821dup	NP_001108453.1:p.Thr274_Lys275insThr
NM_001114982.2:c.819_821dup	NP_001108454.1:p.Thr274_Lys275insThr
NM_001329144.2:c.1101_1103dup	NP_001316073.1:p.Thr368_Lys369insThr
NM_001329145.2:c.819_821dup	NP_001316074.1:p.Thr274_Lys275insThr
NM_001329146.2:c.564_566dup	NP_001316075.1:p.Thr189_Lys190insThr
NM_001329148.2:c.1101_1103dup	NP_001316077.1:p.Thr368_Lys369insThr
NM_001329149.2:c.819_821dup	NP_001316078.1:p.Thr274_Lys275insThr
NM_001329150.2:c.564_566dup	NP_001316079.1:p.Thr189_Lys190insThr
NM_001329964.2:c.1095_1097dup	NP_001316893.1:p.Thr366_Lys367insThr