Canonical Allele Identifier: CA2612257262

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615500-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615502_6615503dup , CM000673.2:g.6615502_6615503dup	GRCh38
NC_000011.9:g.6636733_6636734dup , CM000673.1:g.6636733_6636734dup	GRCh37
NC_000011.8:g.6593309_6593310dup	NCBI36
NG_008653.1:g.8960_8961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1092_1093dup	ENSP00000507321.1:p.Ile365LysfsTer25
ENST00000299427.12:c.1206_1207dup MANE Select	ENSP00000299427.6:p.Ile403LysfsTer25
ENST00000436873.7:c.443_444dup
ENST00000524924.2:n.326_327dup
ENST00000533371.6:c.477_478dup	ENSP00000437066.1:p.Ile160LysfsTer25
ENST00000642892.1:c.477_478dup	ENSP00000494165.1:p.Ile160LysfsTer25
ENST00000643342.1:c.279_280dup
ENST00000643439.1:c.*946_*947dup	ENSP00000495849.1:n.*946_*947dup
ENST00000643479.1:n.1392_1393dup
ENST00000643516.1:c.715_716dup
ENST00000644218.1:c.1017_1018dup	ENSP00000493574.1:p.Ile340LysfsTer25
ENST00000644683.1:c.*659_*660dup	ENSP00000494085.1:n.*659_*660dup
ENST00000644810.1:c.927_928dup	ENSP00000495895.1:p.Ile310LysfsTer25
ENST00000644831.1:n.1382_1383dup
ENST00000644933.1:c.*72_*73dup	ENSP00000496133.1:n.*72_*73dup
ENST00000645285.1:c.*72_*73dup	ENSP00000495058.1:n.*72_*73dup
ENST00000645331.1:n.2411_2412dup
ENST00000645620.1:c.477_478dup	ENSP00000493657.1:p.Ile160LysfsTer25
ENST00000646691.1:n.981_982dup
ENST00000646777.1:n.1539_1540dup
ENST00000647016.1:n.1686_1687dup
ENST00000647152.1:c.477_478dup	ENSP00000495893.1:p.Ile160LysfsTer25
ENST00000647209.1:c.*1075_*1076dup	ENSP00000495558.1:n.*1075_*1076dup
ENST00000647346.1:n.2226_2227dup
ENST00000299427.10:c.1206_1207dup	ENSP00000299427.6:p.Ile403LysfsTer25
ENST00000524924.1:n.161_162dup
ENST00000532191.1:n.259_260dup
ENST00000533371.5:c.477_478dup	ENSP00000437066.1:p.Ile160LysfsTer25
ENST00000611494.4:c.1206_1207dup	ENSP00000484546.1:p.Ile403LysfsTer25
NM_000391.3:c.1206_1207dup	NP_000382.3:p.Ile403LysfsTer25
NM_000391.4:c.1206_1207dup MANE Select	NP_000382.3:p.Ile403LysfsTer25