Canonical Allele Identifier: CA2695213207

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614610_6614621del , CM000673.2:g.6614610_6614621del	GRCh38
NC_000011.9:g.6635841_6635852del , CM000673.1:g.6635841_6635852del	GRCh37
NC_000011.8:g.6592417_6592428del	NCBI36
NG_008653.1:g.9846_9857del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1508_1519del	ENSP00000507321.1:p.Gly503_Pro506del
ENST00000299427.12:c.1622_1633del MANE Select	ENSP00000299427.6:p.Gly541_Pro544del
ENST00000524611.2:n.661_672del
ENST00000524924.2:n.742_753del
ENST00000533371.6:c.893_904del	ENSP00000437066.1:p.Gly298_Pro301del
ENST00000642892.1:c.893_904del	ENSP00000494165.1:p.Gly298_Pro301del
ENST00000643342.1:c.695_706del
ENST00000643439.1:c.*1362_*1373del	ENSP00000495849.1:n.*1362_*1373del
ENST00000643479.1:n.1808_1819del
ENST00000643516.1:c.1131_1142del
ENST00000644218.1:c.1433_1444del	ENSP00000493574.1:p.Gly478_Pro481del
ENST00000644683.1:c.*1075_*1086del	ENSP00000494085.1:n.*1075_*1086del
ENST00000644810.1:c.1343_1354del	ENSP00000495895.1:p.Gly448_Pro451del
ENST00000644831.1:n.1798_1809del
ENST00000644933.1:c.*488_*499del	ENSP00000496133.1:n.*488_*499del
ENST00000645285.1:c.*488_*499del	ENSP00000495058.1:n.*488_*499del
ENST00000645331.1:n.2827_2838del
ENST00000645620.1:c.893_904del	ENSP00000493657.1:p.Gly298_Pro301del
ENST00000646691.1:n.1509_1520del
ENST00000646777.1:n.1955_1966del
ENST00000647016.1:n.2102_2113del
ENST00000647152.1:c.893_904del	ENSP00000495893.1:p.Gly298_Pro301del
ENST00000647209.1:c.*1491_*1502del	ENSP00000495558.1:n.*1491_*1502del
ENST00000647346.1:n.2642_2653del
ENST00000299427.10:c.1622_1633del	ENSP00000299427.6:p.Gly541_Pro544del
ENST00000533371.5:c.893_904del	ENSP00000437066.1:p.Gly298_Pro301del
ENST00000611494.4:c.1622_1633del	ENSP00000484546.1:p.Gly541_Pro544del
NM_000391.3:c.1622_1633del	NP_000382.3:p.Gly541_Pro544del
NM_000391.4:c.1622_1633del MANE Select	NP_000382.3:p.Gly541_Pro544del