Canonical Allele Identifier: CA2580083983

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2088654
• ClinVar RCV Id: RCV003011747

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614559_6614563del , CM000673.2:g.6614559_6614563del	GRCh38
NC_000011.9:g.6635790_6635794del , CM000673.1:g.6635790_6635794del	GRCh37
NC_000011.8:g.6592366_6592370del	NCBI36
NG_008653.1:g.9903_9907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1565_1569del	ENSP00000507321.1:p.Leu522GlnfsTer?
ENST00000299427.12:c.1679_1683del MANE Select	ENSP00000299427.6:p.Leu560GlnfsTer?
ENST00000524611.2:n.718_722del
ENST00000533371.6:c.950_954del	ENSP00000437066.1:p.Leu317GlnfsTer?
ENST00000642892.1:c.950_954del	ENSP00000494165.1:p.Leu317GlnfsTer?
ENST00000643342.1:c.752_756del
ENST00000643439.1:c.*1419_*1423del	ENSP00000495849.1:n.*1419_*1423del
ENST00000643479.1:n.1865_1869del
ENST00000643516.1:c.1188_1192del
ENST00000644218.1:c.1490_1494del	ENSP00000493574.1:p.Leu497GlnfsTer?
ENST00000644683.1:c.*1132_*1136del	ENSP00000494085.1:n.*1132_*1136del
ENST00000644810.1:c.1400_1404del	ENSP00000495895.1:p.Leu467GlnfsTer?
ENST00000644831.1:n.1855_1859del
ENST00000644933.1:c.*545_*549del	ENSP00000496133.1:n.*545_*549del
ENST00000645285.1:c.*545_*549del	ENSP00000495058.1:n.*545_*549del
ENST00000645331.1:n.2884_2888del
ENST00000645620.1:c.950_954del	ENSP00000493657.1:p.Leu317GlnfsTer?
ENST00000646691.1:n.1566_1570del
ENST00000646777.1:n.2012_2016del
ENST00000647016.1:n.2159_2163del
ENST00000647152.1:c.950_954del	ENSP00000495893.1:p.Leu317GlnfsTer?
ENST00000647209.1:c.*1548_*1552del	ENSP00000495558.1:n.*1548_*1552del
ENST00000647346.1:n.2699_2703del
ENST00000299427.10:c.1679_1683del	ENSP00000299427.6:p.Leu560GlnfsTer?
ENST00000533371.5:c.950_954del	ENSP00000437066.1:p.Leu317GlnfsTer?
ENST00000611494.4:c.*7_*11del	ENSP00000484546.1:n.*7_*11del
NM_000391.3:c.1679_1683del	NP_000382.3:p.Leu560GlnfsTer?
NM_000391.4:c.1679_1683del MANE Select	NP_000382.3:p.Leu560GlnfsTer?