Canonical Allele Identifier: CA090904

Gene: TPP1

Linked Data

• ClinVar Variation Id: 661918
• ClinVar RCV Id: RCV000819442 ; RCV001092691 ; RCV004017748
• dbSNP Id: rs759664259
• ExAC: 11:6635789 TAG / T
• gnomAD v2: 11-6635789-TAG-T
• gnomAD v4: 11-6614558-TAG-T
• MyVariant Identifiers: chr11:g.6635790_6635791del (hg19) ; chr11:g.6614560_6614561del (hg38) ; chr11:g.6614559_6614560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614561_6614562del , CM000673.2:g.6614561_6614562del	GRCh38
NC_000011.9:g.6635792_6635793del , CM000673.1:g.6635792_6635793del	GRCh37
NC_000011.8:g.6592368_6592369del	NCBI36
NG_008653.1:g.9902_9903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1564_1565del	ENSP00000507321.1:p.Leu522ThrfsTer?
ENST00000299427.12:c.1678_1679del MANE Select	ENSP00000299427.6:p.Leu560ThrfsTer?
ENST00000524611.2:n.717_718del
ENST00000533371.6:c.949_950del	ENSP00000437066.1:p.Leu317ThrfsTer?
ENST00000642892.1:c.949_950del	ENSP00000494165.1:p.Leu317ThrfsTer?
ENST00000643342.1:c.751_752del
ENST00000643439.1:c.*1418_*1419del	ENSP00000495849.1:n.*1418_*1419del
ENST00000643479.1:n.1864_1865del
ENST00000643516.1:c.1187_1188del
ENST00000644218.1:c.1489_1490del	ENSP00000493574.1:p.Leu497ThrfsTer?
ENST00000644683.1:c.*1131_*1132del	ENSP00000494085.1:n.*1131_*1132del
ENST00000644810.1:c.1399_1400del	ENSP00000495895.1:p.Leu467ThrfsTer?
ENST00000644831.1:n.1854_1855del
ENST00000644933.1:c.*544_*545del	ENSP00000496133.1:n.*544_*545del
ENST00000645285.1:c.*544_*545del	ENSP00000495058.1:n.*544_*545del
ENST00000645331.1:n.2883_2884del
ENST00000645620.1:c.949_950del	ENSP00000493657.1:p.Leu317ThrfsTer?
ENST00000646691.1:n.1565_1566del
ENST00000646777.1:n.2011_2012del
ENST00000647016.1:n.2158_2159del
ENST00000647152.1:c.949_950del	ENSP00000495893.1:p.Leu317ThrfsTer?
ENST00000647209.1:c.*1547_*1548del	ENSP00000495558.1:n.*1547_*1548del
ENST00000647346.1:n.2698_2699del
ENST00000299427.10:c.1678_1679del	ENSP00000299427.6:p.Leu560ThrfsTer?
ENST00000533371.5:c.949_950del	ENSP00000437066.1:p.Leu317ThrfsTer?
ENST00000611494.4:c.*6_*7del	ENSP00000484546.1:n.*6_*7del
NM_000391.3:c.1678_1679del	NP_000382.3:p.Leu560ThrfsTer?
NM_000391.4:c.1678_1679del MANE Select	NP_000382.3:p.Leu560ThrfsTer?