Canonical Allele Identifier: CA5858696

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2788604
• ClinVar RCV Id: RCV003674167
• dbSNP Id: rs749931209
• ExAC: 11:6636662 AAC / A
• gnomAD v2: 11-6636662-AAC-A
• gnomAD v4: 11-6615431-AAC-A
• MyVariant Identifiers: chr11:g.6636663_6636664del (hg19) ; chr11:g.6615432_6615433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615436_6615437del , CM000673.2:g.6615436_6615437del	GRCh38
NC_000011.9:g.6636667_6636668del , CM000673.1:g.6636667_6636668del	GRCh37
NC_000011.8:g.6593243_6593244del	NCBI36
NG_008653.1:g.9029_9030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+9_1152+10del	ENSP00000507321.1:n.1152+9_1152+10del
ENST00000299427.12:c.1266+9_1266+10del MANE Select	ENSP00000299427.6:n.1266+9_1266+10del
ENST00000436873.7:c.503+9_503+10del
ENST00000524611.2:n.23_24del
ENST00000524924.2:n.386+9_386+10del
ENST00000533371.6:c.537+9_537+10del	ENSP00000437066.1:n.537+9_537+10del
ENST00000642892.1:c.537+9_537+10del	ENSP00000494165.1:n.537+9_537+10del
ENST00000643342.1:c.339+9_339+10del
ENST00000643439.1:c.*1006+9_*1006+10del	ENSP00000495849.1:n.*1006+9_*1006+10del
ENST00000643479.1:n.1452+9_1452+10del
ENST00000643516.1:c.775+9_775+10del
ENST00000644218.1:c.1077+9_1077+10del	ENSP00000493574.1:n.1077+9_1077+10del
ENST00000644683.1:c.*719+9_*719+10del	ENSP00000494085.1:n.*719+9_*719+10del
ENST00000644810.1:c.987+9_987+10del	ENSP00000495895.1:n.987+9_987+10del
ENST00000644831.1:n.1442+9_1442+10del
ENST00000644933.1:c.*132+9_*132+10del	ENSP00000496133.1:n.*132+9_*132+10del
ENST00000645285.1:c.*132+9_*132+10del	ENSP00000495058.1:n.*132+9_*132+10del
ENST00000645331.1:n.2471+9_2471+10del
ENST00000645620.1:c.537+9_537+10del	ENSP00000493657.1:n.537+9_537+10del
ENST00000646691.1:n.1050_1051del
ENST00000646777.1:n.1599+9_1599+10del
ENST00000647016.1:n.1746+9_1746+10del
ENST00000647152.1:c.537+9_537+10del	ENSP00000495893.1:n.537+9_537+10del
ENST00000647209.1:c.*1135+9_*1135+10del	ENSP00000495558.1:n.*1135+9_*1135+10del
ENST00000647346.1:n.2286+9_2286+10del
ENST00000299427.10:c.1266+9_1266+10del	ENSP00000299427.6:n.1266+9_1266+10del
ENST00000524611.1:n.41_42del
ENST00000524924.1:n.221+9_221+10del
ENST00000532191.1:n.319+9_319+10del
ENST00000533371.5:c.537+9_537+10del	ENSP00000437066.1:n.537+9_537+10del
ENST00000611494.4:c.1266+9_1266+10del	ENSP00000484546.1:n.1266+9_1266+10del
NM_000391.3:c.1266+9_1266+10del	NP_000382.3:n.1266+9_1266+10del
NM_000391.4:c.1266+9_1266+10del MANE Select	NP_000382.3:n.1266+9_1266+10del